C0027672[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684839	NM_001365951.3(KIF1B):c.1130C>T (p.Thr377Ile)	KIF1B (T371I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 801434	NM_001365951.3(KIF1B):c.5406A>G (p.Ile1802Met)	KIF1B (I1756M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 412491	NM_003000.3(SDHB):c.650G>A (p.Arg217His)	SDHB (R217H)	Single nucleotide variant (missense variant)	Paragangliomas 4 +5 more	GConflicting classifications of pathogenicity
Select item 41771	NM_003000.3(SDHB):c.638T>C (p.Met213Thr)	SDHB (M213T)	Single nucleotide variant (missense variant)	Cowden syndrome +6 more	GUncertain significance
Select item 412462	NM_003000.3(SDHB):c.591del (p.Ser198fs)	SDHB (S198fs)	Deletion (frameshift variant)	SDHB-Related Disorders +4 more	GPathogenic
Select item 12792	NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SDHB (S163P)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 412466	NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)	SDHB (Y147C)	Single nucleotide variant (missense variant)	Cowden syndrome +7 more	GConflicting classifications of pathogenicity
Select item 36769	NM_003000.3(SDHB):c.423+20T>A	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +5 more	GConflicting classifications of pathogenicity
Select item 239429	NM_003000.3(SDHB):c.307A>G (p.Met103Val)	SDHB (M103V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GConflicting classifications of pathogenicity
Select item 371801	NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)	SDHB (R38C)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +6 more	GUncertain significance
Select item 36768	NM_003000.3(SDHB):c.32G>A (p.Arg11His)	SDHB (R11H)	Single nucleotide variant (missense variant)	SDHB-related condition +9 more	GConflicting classifications of pathogenicity
Select item 12791	NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)	SDHB (A3G)	Single nucleotide variant (missense variant)	SDHB-related condition +9 more	GBenign/Likely benign
Select item 184193	NM_001048174.2(MUTYH):c.1533T>C (p.Thr511=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 584584	NM_001048174.2(MUTYH):c.1515T>A (p.Phe505Leu)	MUTYH (F533L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 41756	NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)	MUTYH (L529M +8 more)	Single nucleotide variant (missense variant +1 more)	Gastric cancer +4 more	GBenign/Likely benign
Select item 134867	NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)	MUTYH (P516L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 479989	NM_001048174.2(MUTYH):c.1434+3A>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 134866	NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)	MUTYH (G503E +8 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related condition +6 more	GConflicting classifications of pathogenicity
Select item 620207	NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter)	MUTYH (Q501* +7 more)	Single nucleotide variant (nonsense +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 187040	NM_001048174.2(MUTYH):c.1392+2C>T	MUTYH	Single nucleotide variant (splice donor variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 127838	NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)	MUTYH (E480del +7 more)	Microsatellite (inframe_deletion +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic
Select item 233326	NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 141933	NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln)	MUTYH (R437Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 127832	NM_001048174.2(MUTYH):c.1205C>T (p.Pro402Leu)	MUTYH (P430L +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 41753	NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)	MUTYH (R426C +8 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related condition +5 more	GConflicting classifications of pathogenicity
Select item 220923	NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val)	MUTYH (L420V +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 41752	NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)	MUTYH (L420M +8 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related condition +4 more	GConflicting classifications of pathogenicity
Select item 406824	NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)	MUTYH (Q414* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +8 more	GPathogenic/Likely pathogenic
Select item 801475	NM_001048174.2(MUTYH):c.1103-27C>T	MUTYH	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 135981	NM_001048174.2(MUTYH):c.1102+9A>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 925423	NM_001048174.2(MUTYH):c.1096A>G (p.Asn366Asp)	MUTYH (N367D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 156509	NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)	MUTYH (Q391* +8 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 238334	NM_001048174.2(MUTYH):c.1072C>G (p.Gln358Glu)	MUTYH (Q386E +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 134860	NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	MUTYH (A357fs +7 more)	Deletion (frameshift variant +1 more)	MUTYH-related condition +4 more	GPathogenic/Likely pathogenic
Select item 134863	NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp)	MUTYH (G381W +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 41751	NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)	MUTYH (A359V +7 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related condition +4 more	GBenign/Likely benign
Select item 959270	NM_001048174.2(MUTYH):c.1001C>T (p.Ala334Val)	MUTYH (A219V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 246011	NM_001048174.2(MUTYH):c.986A>G (p.Asn329Ser)	MUTYH (N357S +7 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related condition +3 more	GUncertain significance
Select item 132703	NM_001048174.2(MUTYH):c.914-9C>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 231875	NM_001048174.2(MUTYH):c.903G>C (p.Val301=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely benign
Select item 134859	NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)	MUTYH (V329M +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 182695	NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)	MUTYH (S324L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 41766	NM_001048174.2(MUTYH):c.850-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	MUTYH-related condition +5 more	GConflicting classifications of pathogenicity
Select item 135992	NM_001048174.2(MUTYH):c.849+3A>C	MUTYH	Single nucleotide variant (intron variant)	MUTYH-related condition +4 more	GConflicting classifications of pathogenicity
Select item 182694	NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys)	MUTYH (R311K +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 41765	NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)	MUTYH (R309C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
Select item 135990	NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)	MUTYH (V246F +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 185274	NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)	MUTYH (R241W +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 187628	NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile)	MUTYH (V239I +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 184309	NM_001048174.2(MUTYH):c.630C>T (p.Asn210=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	MUTYH-related condition +4 more	GBenign/Likely benign
Select item 464736	NM_001048174.2(MUTYH):c.610A>T (p.Thr204Ser)	MUTYH (T232S +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142271	NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala)	MUTYH (T232A +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 419912	NM_001048174.2(MUTYH):c.607-18_607-17del	MUTYH	Deletion (intron variant)	Familial adenomatous polyposis 2 +2 more	GLikely benign
Select item 801477	NM_001048174.2(MUTYH):c.606+21C>A	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +4 more	GBenign/Likely benign
Select item 127847	NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)	MUTYH (I223V +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 140830	NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)	MUTYH (R217H +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 184447	NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys)	MUTYH (R217C +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 135988	NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys)	MUTYH (R203C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 141306	NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp)	MUTYH (E196D +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 483912	NM_001048174.2(MUTYH):c.493-5A>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 183746	NM_001048174.2(MUTYH):c.493-5A>G	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 233334	NM_001048174.2(MUTYH):c.484G>T (p.Ala162Ser)	MUTYH (A190S +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 182689	NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)	MUTYH (R182H +7 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related condition +5 more	GPathogenic
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related condition +4 more	GPathogenic/Likely pathogenic
Select item 186709	NM_001048174.2(MUTYH):c.421-2A>C	MUTYH	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 140814	NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)	MUTYH (D161H +8 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related condition +4 more	GConflicting classifications of pathogenicity
Select item 481806	NM_001048174.2(MUTYH):c.395A>G (p.Gln132Arg)	MUTYH (Q160R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 234229	NM_001048174.2(MUTYH):c.305-1G>C	MUTYH	Single nucleotide variant (splice acceptor variant +1 more)	not provided +4 more	GPathogenic
Select item 951920	NM_001048174.2(MUTYH):c.264+10C>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 581172	NM_001048174.2(MUTYH):c.259A>G (p.Arg87Gly)	MUTYH (R115G +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 183896	NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)	MUTYH (R109W +6 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 822410	NM_001048174.2(MUTYH):c.213C>A (p.Ser71Arg)	MUTYH (S72R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 584588	NM_001048174.2(MUTYH):c.181G>C (p.Asp61His)	MUTYH (D89H +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41758	NM_001048174.2(MUTYH):c.167A>G (p.Tyr56Cys)	MUTYH (Y84C +6 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 219610	NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr)	MUTYH (C54Y)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 41763	NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)	MUTYH (G25D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127834	NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln)	MUTYH (R19Q +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 41759	NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)	MUTYH (P18L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 215797	NM_001048174.2(MUTYH):c.-6-7G>A	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 801481	NM_001128425.2(MUTYH):c.36+214G>C	MUTYH	Single nucleotide variant (intron variant +2 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 801587	NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys)	CDC73 (R484C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 42095	NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	FH	Duplication (inframe_insertion)	FH-related condition +5 more	GConflicting classifications of pathogenicity
Select item 296866	NM_000143.4(FH):c.1237-50TC[21]	FH	Microsatellite (intron variant)	Hereditary leiomyomatosis and renal cell cancer +4 more	GConflicting classifications of pathogenicity
Select item 296865	NM_000143.4(FH):c.1237-50TC[20]	FH	Microsatellite (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 239836	NM_004304.5(ALK):c.4407G>A (p.Pro1469=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 412909	NM_004304.5(ALK):c.3363T>A (p.Gly1121=)	ALK	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 801668	NM_002354.3(EPCAM):c.38T>C (p.Leu13Pro)	EPCAM (L13P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 90485	NM_000251.2(MSH2):c.-118T>C	MSH2	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome	GBenign
Select item 141148	NM_000251.2(MSH2):c.-68G>A	MSH2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 90833	NM_000251.3(MSH2):c.1A>G (p.Met1Val)	MSH2 (M1V)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 90682	NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)	MSH2 (P5Q)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colon cancer +8 more	GConflicting classifications of pathogenicity
Select item 90964	NM_000251.3(MSH2):c.23C>T (p.Thr8Met)	MSH2 (T8M)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 182595	NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)	MSH2 (F19L)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 584604	NM_000251.3(MSH2):c.64T>A (p.Phe22Ile)	MSH2 (F22I)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 188160	NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)	MSH2 (F23L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 185297	NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)	MSH2 (P27L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 91268	NM_000251.3(MSH2):c.97A>G (p.Thr33Ala)	MSH2 (T33A)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 90619	NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	MSH2 (Y43C)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +8 more	GConflicting classifications of pathogenicity
Select item 90654	NM_000251.3(MSH2):c.138C>G (p.His46Gln)	MSH2 (H46Q)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign

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