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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155730	NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)	MFN2 (R259C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +4 more	GPathogenic/Likely pathogenic
Select item 750796	NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)	RPE65 (D477G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +5 more	GPathogenic/Likely pathogenic
Select item 1693716	NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe)	CFH (L1189F)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 228409	NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)	TNNT2 (R173W +3 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GPathogenic
Select item 1332908	NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg)	EIF2AK2 (G130R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1332909	NM_001135651.3(EIF2AK2):c.95A>C (p.Asn32Thr)	EIF2AK2 (N32T)	Single nucleotide variant (missense variant)	Dystonia 33	GUncertain significance
Select item 1067857	NM_000251.3(MSH2):c.1387-1G>A	MSH2	Single nucleotide variant (splice acceptor variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely pathogenic
Select item 8932	NM_000179.3(MSH6):c.651dup (p.Lys218Ter)	MSH6 (K88* +1 more)	Duplication (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 89262	NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)	MSH6 (R732* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 450533	NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter)	SCN2A (R1882*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 212543	NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	UGT1A, UGT1A1 +8 more (P361L +4 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity; other
Select item 178692	NM_000551.4(VHL):c.256C>T (p.Pro86Ser)	VHL (P86S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2451969	NM_000551.4(VHL):c.343C>T (p.His115Tyr)	LOC107303340, VHL (H115Y)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1752174	NM_000249.4(MLH1):c.61G>A (p.Ala21Thr)	MLH1 (A21T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 823364	NM_000249.4(MLH1):c.95T>A (p.Ile32Asn)	MLH1 (I32N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1786123	NM_000249.4(MLH1):c.107T>A (p.Ile36Asn)	MLH1 (I36N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 955911	NM_000249.4(MLH1):c.112A>T (p.Asn38Tyr)	MLH1 (N38Y)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic/Likely pathogenic
Select item 455377	NM_000249.4(MLH1):c.117T>G (p.Cys39Trp)	MLH1 (C39W)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 455379	NM_000249.4(MLH1):c.122A>T (p.Asp41Val)	MLH1 (D41V)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic/Likely pathogenic
Select item 819863	NM_000249.4(MLH1):c.170_181del (p.Lys57_Gln60del)	MLH1	Deletion (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1780925	NM_000249.4(MLH1):c.182T>A (p.Ile61Asn)	MLH1 (I61N)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 17106	NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)	MLH1 (G67E)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GPathogenic
Select item 820585	NM_000249.4(MLH1):c.203T>G (p.Ile68Ser)	MLH1 (I68S)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1785596	NM_000249.4(MLH1):c.208-3C>A	MLH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1365656	NM_000249.4(MLH1):c.218T>C (p.Leu73Pro)	MLH1 (L73P)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 642117	NM_000249.4(MLH1):c.229T>G (p.Cys77Gly)	MLH1 (C77G)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +4 more	GUncertain significance
Select item 568777	NM_000249.4(MLH1):c.266A>G (p.Glu89Gly)	MLH1 (E89G)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +2 more	GUncertain significance
Select item 483568	NM_000249.4(MLH1):c.289T>G (p.Tyr97Asp)	MLH1 (Y97D)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 525811	NM_000249.4(MLH1):c.292_293delinsTT (p.Gly98Phe)	MLH1 (G98F)	Indel (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 90129	NM_000249.4(MLH1):c.292G>C (p.Gly98Arg)	MLH1 (G98R +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 90128	NM_000249.4(MLH1):c.292G>A (p.Gly98Ser)	MLH1 (G98S +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 1798276	NM_000249.4(MLH1):c.296T>C (p.Phe99Ser)	MLH1 (F3L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 572275	NM_000249.4(MLH1):c.301G>C (p.Gly101Arg)	MLH1 (G101R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 90137	NM_000249.4(MLH1):c.301G>A (p.Gly101Ser)	MLH1 (G101S)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GLikely pathogenic
Select item 1723354	NM_000249.4(MLH1):c.302G>T (p.Gly101Val)	MLH1 (G101V)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 90138	NM_000249.4(MLH1):c.302G>A (p.Gly101Asp)	MLH1 (G101D)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GLikely pathogenic
Select item 1730817	NM_000249.4(MLH1):c.338_364del (p.Val113_Asp121del)	MLH1	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1730897	NM_000249.4(MLH1):c.338T>C (p.Val113Ala)	MLH1 (V113A +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 525605	NM_000249.4(MLH1):c.344T>A (p.Ile115Asn)	MLH1 (I115N +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 17094	NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	MLH1 (T117M +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 433851	NM_000249.4(MLH1):c.374C>A (p.Ala125Glu)	MLH1 (A125E +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 90218	NM_000249.4(MLH1):c.439G>C (p.Gly147Arg)	MLH1 (G147R +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1741279	NM_000249.4(MLH1):c.453+2T>A	MLH1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 579404	NM_000249.4(MLH1):c.455T>G (p.Val152Gly)	MLH1 (V152G +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1746564	NM_000249.4(MLH1):c.528_542del (p.Leu177_Gly181del)	MLH1	Deletion (inframe_deletion +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1758254	NM_000249.4(MLH1):c.730G>C (p.Gly244Arg)	MLH1 (G146R +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 90340	NM_000249.4(MLH1):c.731G>T (p.Gly244Val)	MLH1 (G244V +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 90460	NM_000249.4(MLH1):c.988_990del (p.Ile330del)	MLH1 (I330del +3 more)	Deletion (inframe_deletion +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 29657	NM_000249.4(MLH1):c.1865T>A (p.Leu622His)	MLH1 (L622H +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 89954	NM_000249.4(MLH1):c.1946del (p.Pro649fs)	MLH1 (P551fs +5 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 1788270	NM_000249.4(MLH1):c.2240_2241insGT (p.Asp748fs)	MLH1 (D715fs +8 more)	Insertion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 185628	NM_000249.4(MLH1):c.2248_2249del (p.Tyr750fs)	MLH1 (Y509fs +8 more)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2571196	NM_006218.4(PIK3CA):c.1340_1366del (p.Pro447_Leu455del)	PIK3CA	Deletion (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 411870	NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)	PKD2 (R325*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2 +3 more	GPathogenic
Select item 642356	NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu)	LOC126807137, ANK2 (P2383L +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +4 more	GConflicting classifications of pathogenicity
Select item 410700	NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg)	SPINK1 (Q68R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 410699	NM_001379610.1(SPINK1):c.198A>C (p.Lys66Asn)	SPINK1 (K66N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 36779	NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln)	SPINK1 (R65Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 496198	NM_001379610.1(SPINK1):c.193C>T (p.Arg65Trp)	SPINK1 (R65W)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 36780	NM_001379610.1(SPINK1):c.27del (p.Ser10fs)	SPINK1 (S10fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 162508	NM_000535.7(PMS2):c.1144+1G>A	PMS2	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome 4 +4 more	GPathogenic/Likely pathogenic
Select item 216449	NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)	PMS2	Deletion (inframe_deletion +3 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 7479	NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)	HSPB1 (R127W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 2496930	NM_001868.4(CPA1):c.14T>C (p.Leu5Pro)	CPA1 (L5P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1428293	NM_001868.4(CPA1):c.197G>A (p.Arg66Gln)	CPA1 (R66Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 1431544	NM_001868.4(CPA1):c.298G>A (p.Glu100Lys)	CPA1 (E100K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 825414	NM_001868.4(CPA1):c.506G>A (p.Arg169His)	CPA1 (R169H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 1037142	NM_001868.4(CPA1):c.527C>T (p.Thr176Met)	CPA1 (T176M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 1440910	NM_001868.4(CPA1):c.718C>T (p.Arg240Trp)	CPA1 (R240W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1749265	NM_001868.4(CPA1):c.1208C>T (p.Thr403Met)	CPA1 (T403M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 618662	NM_018972.4(GDAP1):c.767A>G (p.His256Arg)	GDAP1 (H256R +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +5 more	GPathogenic
Select item 598277	NM_000392.5(ABCC2):c.2077G>A (p.Gly693Arg)	ABCC2 (G693R)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 37143	NM_001025295.3(IFITM5):c.-14C>T	IFITM5, PGGHG	Single nucleotide variant (5 prime UTR variant)	Postmenopausal osteoporosis +3 more	GPathogenic
Select item 53049	NM_000218.3(KCNQ1):c.478G>A (p.Glu160Lys)	KCNQ1 (E160K +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 53058	NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)	KCNQ1 (R174C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GPathogenic/Likely pathogenic
Select item 53101	NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)	KCNQ1 (R259H +2 more)	Single nucleotide variant (missense variant)	Short QT syndrome type 2 +7 more	GConflicting classifications of pathogenicity
Select item 43241	NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)	MYO7A (L1484F +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2500165	NM_001278309.2(AKAP3):c.2286_2287del (p.His762fs)	AKAP3 (H762fs)	Microsatellite (frameshift variant)	Spermatogenic failure 82	GPathogenic
Select item 2500166	NM_001278309.2(AKAP3):c.44G>A (p.Cys15Tyr)	AKAP3 (C15Y)	Single nucleotide variant (missense variant)	Spermatogenic failure 82	GPathogenic
Select item 1940	NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	LRRK2 (G2019S)	Single nucleotide variant (missense variant)	Autosomal dominant Parkinson disease 8 +5 more	GPathogenic/Likely pathogenic; risk factor
Select item 44733	NM_004004.6(GJB2):c.279G>A (p.Met93Ile)	GJB2 (M93I)	Single nucleotide variant (missense variant)	Rare genetic deafness +9 more	GPathogenic/Likely pathogenic
Select item 17023	NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	GJB2 (V37I)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17000	NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	GJB2 (M34T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 44740	NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	GJB2 (G12C)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 141498	NM_000059.4(BRCA2):c.1666A>G (p.Asn556Asp)	BRCA2 (N556D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 220061	NM_000059.4(BRCA2):c.3540G>C (p.Lys1180Asn)	BRCA2 (K1180N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 51791	NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37989	NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)	BRCA2 (Y1894*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52353	NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)	BRCA2 (R2520*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38155	NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)	BRCA2 (R2784W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 495414	NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)	ATP7B (V1106I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 188831	NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)	ATP7B (P992L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 3852	NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)	ATP7B (R778L +2 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease +3 more	GPathogenic
Select item 412119	NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu)	DICER1 (S1814L)	Single nucleotide variant (missense variant +1 more)	DICER1-related tumor predisposition	GPathogenic FDA Recognized database
Select item 690480	NM_177438.3(DICER1):c.5125G>A (p.Asp1709Asn)	DICER1 (D1709N)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition	GPathogenic FDA Recognized database
Select item 932987	NM_177438.3(DICER1):c.5113G>A (p.Glu1705Lys)	DICER1 (E1705K)	Single nucleotide variant (missense variant)	DICER1-related tumor predisposition	GPathogenic FDA Recognized database
Select item 439708	NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg)	FBN1 (C2221R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1330677	NM_000138.5(FBN1):c.5872T>A (p.Cys1958Ser)	FBN1 (C1958S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 42295	NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)	FBN1 (R62C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GPathogenic
Select item 65758	NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	MVP-DT, PRRT2 (R217fs)	Duplication (frameshift variant)	Neurodevelopmental delay +13 more	GPathogenic/Likely pathogenic

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