4437[geneid] - 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 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 1704341	NM_000791.4(DHFR):c.-189G>C	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
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 3256187	NM_000791.4(DHFR):c.-204T>A	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2673975	NM_002439.5(MSH3):c.-34_-10dup	DHFR, MSH3	Duplication (5 prime UTR variant +1 more)	Familial adenomatous polyposis 4	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 2673932	NM_002439.5(MSH3):c.-30_-18dup	DHFR, MSH3	Duplication (5 prime UTR variant +1 more)	Familial adenomatous polyposis 4	GBenign
Select item 2575337	NM_000791.4(DHFR):c.-214C>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1411391	NM_002439.5(MSH3):c.-18_27del (p.Met1_Gly9del)	DHFR, MSH3	Deletion (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 663408	NC_000005.9:g.(?_79950537)_(79966138_?)dup	DHFR, MSH3	Duplication	not provided	GUncertain significance
Select item 642642	NC_000005.10:g.(?_80654718)_(80679103_?)del	DHFR, LOC126807437 +2 more	Deletion	not provided	GPathogenic
Select item 1704343	NM_000791.4(DHFR):c.-231C>A	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2451037	NM_002439.5(MSH3):c.-5C>G	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1750993	NM_002439.5(MSH3):c.-5C>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1744715	NM_002439.5(MSH3):c.-4T>C	MSH3, DHFR	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1736913	NM_002439.5(MSH3):c.-3G>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798659	NM_002439.5(MSH3):c.-2C>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798650	NM_002439.5(MSH3):c.-2C>A	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1784202	NM_002439.5(MSH3):c.-1del	DHFR, MSH3	Deletion (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586075	NM_002439.5(MSH3):c.-1C>T	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1365126	NM_002439.5(MSH3):c.1A>C (p.Met1Leu)	DHFR, MSH3 (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
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 659229	NM_002439.5(MSH3):c.1A>G (p.Met1Val)	DHFR, MSH3 (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 661263	NM_002439.5(MSH3):c.2T>C (p.Met1Thr)	DHFR, MSH3 (M1T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 1736899	NM_002439.5(MSH3):c.3G>A (p.Met1Ile)	DHFR, MSH3 (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 1521190	NM_002439.5(MSH3):c.3G>C (p.Met1Ile)	DHFR, MSH3 (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2676745	NM_002439.5(MSH3):c.4T>A (p.Ser2Thr)	DHFR, MSH3 (S2T)	Single nucleotide variant (5 prime UTR variant +2 more)	Endometrial carcinoma	GUncertain significance
Select item 1465316	NM_002439.5(MSH3):c.5C>G (p.Ser2Cys)	DHFR, MSH3 (S2C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 863687	NM_002439.5(MSH3):c.5C>T (p.Ser2Phe)	DHFR, MSH3 (S2F)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1761589	NM_002439.5(MSH3):c.7C>G (p.Arg3Gly)	DHFR, MSH3 (R3G)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 854380	NM_002439.5(MSH3):c.7C>T (p.Arg3Cys)	DHFR, MSH3 (R3C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 1501903	NM_002439.5(MSH3):c.8G>C (p.Arg3Pro)	DHFR, MSH3 (R3P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 969087	NM_002439.5(MSH3):c.8G>A (p.Arg3His)	DHFR, MSH3 (R3H)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1908541	NM_002439.5(MSH3):c.9C>T (p.Arg3=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 970069	NM_002439.5(MSH3):c.10C>T (p.Arg4Trp)	DHFR, MSH3 (R4W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 858186	NM_002439.5(MSH3):c.11G>A (p.Arg4Gln)	DHFR, MSH3 (R4Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3222236	NM_002439.5(MSH3):c.13A>C (p.Lys5Gln)	DHFR, MSH3 (K5Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2865556	NM_002439.5(MSH3):c.13A>G (p.Lys5Glu)	DHFR, MSH3 (K5E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 940655	NM_002439.5(MSH3):c.14del (p.Lys5fs)	DHFR, MSH3 (K5fs)	Deletion (5 prime UTR variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 952125	NM_002439.5(MSH3):c.14A>T (p.Lys5Met)	DHFR, MSH3 (K5M)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 864326	NM_002439.5(MSH3):c.14A>G (p.Lys5Arg)	DHFR, MSH3 (K5R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2676774	NM_002439.5(MSH3):c.15del (p.Lys5fs)	DHFR, MSH3 (K5fs)	Deletion (5 prime UTR variant +2 more)	Endometrial carcinoma	GLikely pathogenic
Select item 1776152	NM_002439.5(MSH3):c.15G>A (p.Lys5=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 643321	NM_002439.5(MSH3):c.15G>T (p.Lys5Asn)	DHFR, MSH3 (K5N)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1475335	NM_002439.5(MSH3):c.16C>G (p.Pro6Ala)	DHFR, MSH3 (P6A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	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 2040967	NM_002439.5(MSH3):c.17C>T (p.Pro6Leu)	DHFR, MSH3 (P6L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 938488	NM_002439.5(MSH3):c.19G>A (p.Ala7Thr)	DHFR, MSH3 (A7T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 650665	NM_002439.5(MSH3):c.20C>G (p.Ala7Gly)	DHFR, MSH3 (A7G)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 642980	NM_002439.5(MSH3):c.20C>T (p.Ala7Val)	DHFR, MSH3 (A7V)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 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 842077	NM_002439.5(MSH3):c.22T>A (p.Ser8Thr)	DHFR, MSH3 (S8T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
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 2676736	NM_002439.5(MSH3):c.23C>T (p.Ser8Leu)	DHFR, MSH3 (S8L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1126994	NM_002439.5(MSH3):c.24G>C (p.Ser8=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 751405	NM_002439.5(MSH3):c.24G>A (p.Ser8=)	MSH3, DHFR	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 2179069	NM_002439.5(MSH3):c.25G>A (p.Gly9Ser)	DHFR, MSH3 (G9S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 940522	NM_000791.4(DHFR):c.-264C>A	DHFR, MSH3 (G9V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 937043	NM_002439.5(MSH3):c.26G>C (p.Gly9Ala)	DHFR, MSH3 (G9A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 643786	NM_002439.5(MSH3):c.26G>A (p.Gly9Asp)	DHFR, MSH3 (G9D)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1796167	NM_002439.5(MSH3):c.27C>G (p.Gly9=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1548738	NM_002439.5(MSH3):c.27C>T (p.Gly9=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1692672	NM_002439.5(MSH3):c.28G>A (p.Gly10Ser)	DHFR, MSH3 (G10S)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1469103	NM_002439.5(MSH3):c.28G>T (p.Gly10Cys)	DHFR, MSH3 (G10C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1407360	NM_002439.5(MSH3):c.28G>C (p.Gly10Arg)	DHFR, MSH3 (G10R)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 822499	NM_002439.5(MSH3):c.29G>C (p.Gly10Ala)	MSH3, DHFR (G10A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1915313	NM_002439.5(MSH3):c.31C>T (p.Leu11Phe)	DHFR, MSH3 (L11F)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 647230	NM_002439.5(MSH3):c.31C>G (p.Leu11Val)	DHFR, MSH3 (L11V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1125264	NM_002439.5(MSH3):c.33C>T (p.Leu11=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 2968110	NM_002439.5(MSH3):c.34G>C (p.Ala12Pro)	DHFR, MSH3 (A12P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 965955	NM_002439.5(MSH3):c.34G>T (p.Ala12Ser)	DHFR, MSH3 (A12S)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 642325	NM_002439.5(MSH3):c.34G>A (p.Ala12Thr)	DHFR, MSH3 (A12T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2565673	NM_002439.5(MSH3):c.35C>G (p.Ala12Gly)	DHFR, MSH3 (A12G)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 849331	NM_002439.5(MSH3):c.35C>T (p.Ala12Val)	DHFR, MSH3 (A12V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2834990	NM_002439.5(MSH3):c.36T>G (p.Ala12=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2673506	NM_002439.5(MSH3):c.36del (p.Ala13fs)	DHFR, MSH3 (A13fs)	Deletion (5 prime UTR variant +2 more)	Familial adenomatous polyposis 4	GPathogenic
Select item 1734089	NM_002439.5(MSH3):c.36T>A (p.Ala12=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 1118179	NM_002439.5(MSH3):c.36T>C (p.Ala12=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1735050	NM_002439.5(MSH3):c.37G>A (p.Ala13Thr)	DHFR, MSH3 (A13T)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1023448	NM_002439.5(MSH3):c.40_42dup (p.Ser16_Ala17insSer)	DHFR, MSH3	Duplication (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1409366	NM_002439.5(MSH3):c.38C>A (p.Ala13Asp)	DHFR, MSH3 (A13D)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1736862	NM_002439.5(MSH3):c.39C>T (p.Ala13=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222299	NM_002439.5(MSH3):c.40T>G (p.Ser14Ala)	DHFR, MSH3 (S14A)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1495018	NM_002439.5(MSH3):c.41C>T (p.Ser14Phe)	DHFR, MSH3 (S14F)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2565687	NM_002439.5(MSH3):c.42C>T (p.Ser14=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1034954	NM_002439.5(MSH3):c.43A>G (p.Ser15Gly)	DHFR, MSH3 (S15G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2682015	NM_002439.5(MSH3):c.44G>A (p.Ser15Asn)	DHFR, MSH3 (S15N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2071875	NM_002439.5(MSH3):c.44G>C (p.Ser15Thr)	DHFR, MSH3 (S15T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1997588	NM_002439.5(MSH3):c.45C>G (p.Ser15Arg)	DHFR, MSH3 (S15R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1112852	NM_002439.5(MSH3):c.45C>T (p.Ser15=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2565651	NM_002439.5(MSH3):c.46T>A (p.Ser16Thr)	DHFR, MSH3 (S16T)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2162775	NM_002439.5(MSH3):c.47C>G (p.Ser16Ter)	DHFR, MSH3 (S16*)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 759827	NM_002439.5(MSH3):c.48A>T (p.Ser16=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 948919	NM_002439.5(MSH3):c.49G>A (p.Ala17Thr)	DHFR, MSH3 (A17T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance

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