LOC126807437[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 58788	GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1	ANKRD34B, CMYA5 +40 more	Copy number loss	See cases	GUncertain significance
Select item 642642	NC_000005.10:g.(?_80654718)_(80679103_?)del	DHFR, LOC126807437 +2 more	Deletion	not provided	GPathogenic
Select item 1245349	NM_002439.5(MSH3):c.910-64C>T	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3256428	NM_002439.5(MSH3):c.910-28A>C	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1561265	NM_002439.5(MSH3):c.910-20A>G	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795463	NM_002439.5(MSH3):c.910-17T>G	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1943938	NM_002439.5(MSH3):c.910-17T>C	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032845	NM_002439.5(MSH3):c.910-15T>G	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551328	NM_002439.5(MSH3):c.910-13A>G	MSH3, LOC126807437	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1538325	NM_002439.5(MSH3):c.910-12T>C	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1402489	NM_002439.5(MSH3):c.910-10_910-8del	LOC126807437, MSH3	Deletion (intron variant)	not provided	GUncertain significance
Select item 1473563	NM_002439.5(MSH3):c.910-6T>A	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1062617	NM_002439.5(MSH3):c.910-5T>C	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1765843	NM_002439.5(MSH3):c.910G>C (p.Val304Leu)	MSH3, LOC126807437 (V304L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1534274	NM_002439.5(MSH3):c.912G>C (p.Val304=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1124796	NM_002439.5(MSH3):c.912G>A (p.Val304=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1319194	NM_002439.5(MSH3):c.913G>A (p.Gly305Arg)	MSH3, LOC126807437 (G305R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854096	NM_002439.5(MSH3):c.915A>G (p.Gly305=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765630	NM_002439.5(MSH3):c.915A>T (p.Gly305=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 653675	NM_002439.5(MSH3):c.916G>A (p.Val306Ile)	LOC126807437, MSH3 (V306I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2682892	NM_002439.5(MSH3):c.917T>A (p.Val306Asp)	LOC126807437, MSH3 (V306D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039807	NM_002439.5(MSH3):c.919G>A (p.Val307Met)	LOC126807437, MSH3 (V307M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1766205	NM_002439.5(MSH3):c.920T>G (p.Val307Gly)	MSH3, LOC126807437 (V307G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 657862	NM_002439.5(MSH3):c.923A>T (p.Lys308Met)	LOC126807437, MSH3 (K308M)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 950457	NM_002439.5(MSH3):c.925C>T (p.Gln309Ter)	LOC126807437, MSH3 (Q309*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 844922	NM_002439.5(MSH3):c.928del (p.Thr310fs)	LOC126807437, MSH3 (T310fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 846737	NM_002439.5(MSH3):c.927A>C (p.Gln309His)	LOC126807437, MSH3 (Q309H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3222314	NM_002439.5(MSH3):c.930T>A (p.Thr310=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2673532	NM_002439.5(MSH3):c.930_931del (p.Glu311fs)	LOC126807437, MSH3 (E311fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 1447179	NM_002439.5(MSH3):c.934dup (p.Thr312fs)	LOC126807437, MSH3 (T312fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 639909	NM_002439.5(MSH3):c.934A>G (p.Thr312Ala)	LOC126807437, MSH3 (T312A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108267	NM_002439.5(MSH3):c.935C>G (p.Thr312Ser)	LOC126807437, MSH3 (T312S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1579853	NM_002439.5(MSH3):c.936T>C (p.Thr312=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2694638	NM_002439.5(MSH3):c.938C>T (p.Ala313Val)	LOC126807437, MSH3 (A313V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1020684	NM_002439.5(MSH3):c.938C>A (p.Ala313Glu)	LOC126807437, MSH3 (A313E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1602396	NM_002439.5(MSH3):c.939A>G (p.Ala313=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1766879	NM_002439.5(MSH3):c.940G>A (p.Ala314Thr)	LOC126807437, MSH3 (A314T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1433462	NM_002439.5(MSH3):c.940G>C (p.Ala314Pro)	LOC126807437, MSH3 (A314P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1766898	NM_002439.5(MSH3):c.941C>T (p.Ala314Val)	MSH3, LOC126807437 (A314V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1135753	NM_002439.5(MSH3):c.945A>G (p.Leu315=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1671296	NM_002439.5(MSH3):c.948G>A (p.Lys316=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2769756	NM_002439.5(MSH3):c.949G>C (p.Ala317Pro)	LOC126807437, MSH3 (A317P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1767249	NM_002439.5(MSH3):c.951del (p.Ile318fs)	LOC126807437, MSH3 (I318fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1767245	NM_002439.5(MSH3):c.951C>T (p.Ala317=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 757371	NM_002439.5(MSH3):c.951C>A (p.Ala317=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2814349	NM_002439.5(MSH3):c.952del (p.Ile318fs)	LOC126807437, MSH3 (I318fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 823317	NM_002439.5(MSH3):c.952A>G (p.Ile318Val)	LOC126807437, MSH3 (I318V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 657947	NM_002439.5(MSH3):c.953T>C (p.Ile318Thr)	LOC126807437, MSH3 (I318T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2018567	NM_002439.5(MSH3):c.957del (p.Asp320fs)	LOC126807437, MSH3 (D320fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4 +1 more	GPathogenic
Select item 1767427	NM_002439.5(MSH3):c.957A>C (p.Gly319=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2000317	NM_002439.5(MSH3):c.958G>T (p.Asp320Tyr)	LOC126807437, MSH3 (D320Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3296313	NM_002439.5(MSH3):c.962A>G (p.Asn321Ser)	LOC126807437, MSH3 (N321S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1462952	NM_002439.5(MSH3):c.963C>G (p.Asn321Lys)	LOC126807437, MSH3 (N321K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1135058	NM_002439.5(MSH3):c.963C>T (p.Asn321=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1042678	NM_002439.5(MSH3):c.965G>A (p.Arg322Lys)	LOC126807437, MSH3 (R322K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2565683	NM_002439.5(MSH3):c.966A>C (p.Arg322Ser)	LOC126807437, MSH3 (R322S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1692676	NM_002439.5(MSH3):c.966A>G (p.Arg322=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1471900	NM_002439.5(MSH3):c.967A>G (p.Ser323Gly)	LOC126807437, MSH3 (S323G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1026433	NM_002439.5(MSH3):c.968G>T (p.Ser323Ile)	LOC126807437, MSH3 (S323I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 958859	NM_002439.5(MSH3):c.968G>A (p.Ser323Asn)	MSH3, LOC126807437 (S323N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3222315	NM_002439.5(MSH3):c.969T>G (p.Ser323Arg)	LOC126807437, MSH3 (S323R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2673501	NM_002439.5(MSH3):c.971C>G (p.Ser324Ter)	LOC126807437, MSH3 (S324*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 664608	NM_002439.5(MSH3):c.971C>T (p.Ser324Leu)	MSH3, LOC126807437 (S324L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2983686	NM_002439.5(MSH3):c.972A>G (p.Ser324=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1156737	NM_002439.5(MSH3):c.972A>C (p.Ser324=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3296265	NM_002439.5(MSH3):c.973C>T (p.Leu325Phe)	LOC126807437, MSH3 (L325F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1345483	NM_002439.5(MSH3):c.973C>G (p.Leu325Val)	LOC126807437, MSH3 (L325V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1465958	NM_002439.5(MSH3):c.974T>A (p.Leu325His)	LOC126807437, MSH3 (L325H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1122026	NM_002439.5(MSH3):c.975C>T (p.Leu325=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084616	NM_002439.5(MSH3):c.975C>G (p.Leu325=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 759190	NM_002439.5(MSH3):c.975C>A (p.Leu325=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 971766	NM_002439.5(MSH3):c.978_979del (p.Ser327fs)	LOC126807437, MSH3 (S327fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 657893	NM_002439.5(MSH3):c.978_984del (p.Phe326fs)	MSH3, LOC126807437 (F326fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4 +3 more	GPathogenic/Likely pathogenic
Select item 967500	NM_002439.5(MSH3):c.979T>A (p.Ser327Thr)	LOC126807437, MSH3 (S327T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1045607	NM_002439.5(MSH3):c.980C>G (p.Ser327Cys)	LOC126807437, MSH3 (S327C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1768312	NM_002439.5(MSH3):c.981C>T (p.Ser327=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1768307	NM_002439.5(MSH3):c.981C>G (p.Ser327=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 655120	NM_002439.5(MSH3):c.982C>T (p.Arg328Trp)	LOC126807437, MSH3 (R328W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 823502	NM_002439.5(MSH3):c.983G>A (p.Arg328Gln)	LOC126807437, MSH3 (R328Q)	Single nucleotide variant (missense variant)	Endometrial carcinoma +2 more	GUncertain significance
Select item 1768388	NM_002439.5(MSH3):c.984G>A (p.Arg328=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1345752	NM_002439.5(MSH3):c.986A>T (p.Lys329Ile)	LOC126807437, MSH3 (K329I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 649773	NM_002439.5(MSH3):c.987A>G (p.Lys329=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756374	NM_002439.5(MSH3):c.988T>C (p.Leu330=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 758489	NM_002439.5(MSH3):c.990G>A (p.Leu330=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1768633	NM_002439.5(MSH3):c.992C>A (p.Thr331Asn)	LOC126807437, MSH3 (T331N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1768620	NM_002439.5(MSH3):c.992_994delinsATT (p.Thr331_Ala332delinsAsnSer)	MSH3, LOC126807437	Indel (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3148728	NM_002439.5(MSH3):c.993_994insTC (p.Ala332fs)	MSH3, LOC126807437 (A332fs)	Insertion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 1768707	NM_002439.5(MSH3):c.994G>T (p.Ala332Ser)	LOC126807437, MSH3 (A332S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1768705	NM_002439.5(MSH3):c.994G>C (p.Ala332Pro)	LOC126807437, MSH3 (A332P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1768726	NM_002439.5(MSH3):c.995C>T (p.Ala332Val)	LOC126807437, MSH3 (A332V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1007585	NM_002439.5(MSH3):c.995C>A (p.Ala332Asp)	LOC126807437, MSH3 (A332D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1573790	NM_002439.5(MSH3):c.996C>T (p.Ala332=)	LOC126807437, MSH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1692678	NM_002439.5(MSH3):c.997C>G (p.Leu333Val)	LOC126807437, MSH3 (L333V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1036718	NM_002439.5(MSH3):c.997C>T (p.Leu333Phe)	LOC126807437, MSH3 (L333F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3296285	NM_002439.5(MSH3):c.998T>G (p.Leu333Arg)	LOC126807437, MSH3 (L333R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1754952	NM_002439.5(MSH3):c.1000T>C (p.Tyr334His)	LOC126807437, MSH3 (Y334H)	Single nucleotide variant (missense variant)	Endometrial carcinoma +2 more	GUncertain significance
Select item 661707	NM_002439.5(MSH3):c.1000T>A (p.Tyr334Asn)	LOC126807437, MSH3 (Y334N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421719	NM_002439.5(MSH3):c.1001A>G (p.Tyr334Cys)	LOC126807437, MSH3 (Y334C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 645316	NM_002439.5(MSH3):c.1001A>T (p.Tyr334Phe)	MSH3, LOC126807437 (Y334F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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