ClinVar (all) for Orgtrack (Select 500035) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Orgtrack

Items: 1 to 100 of 12772

<< First< Prev

Page of 128

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233281	NM_015836.4(WARS2):c.37T>A (p.Trp13Arg)	LOC129931299, WARS2 +1 more (W13R)	Single nucleotide variant (non-coding transcript variant +2 more)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	GLikely pathogenic
Select item 3064227	NM_016222.4(DDX41):c.1302+3G>A	DDX41	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3064226	NM_001113378.2(FANCI):c.1583+4T>C	FANCI	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3064225	NM_000059.4(BRCA2):c.475+10A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2690923	NM_000376.3(VDR):c.702C>A (p.Val234=)	VDR	Single nucleotide variant (synonymous variant)	Vitamin D-dependent rickets type II with alopecia	GUncertain significance
Select item 2687868	NM_198691.3(KRTAP10-1):c.477T>A (p.Asp159Glu)	KRTAP10-1, TSPEAR (D159E)	Single nucleotide variant (missense variant +1 more)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	GBenign
Select item 2687867	NM_001395058.1(MYO15B):c.8156+19C>G	MYO15B	Single nucleotide variant (intron variant)	Hereditary cancer	GBenign
Select item 2687866	NM_198691.3(KRTAP10-1):c.475G>T (p.Asp159Tyr)	KRTAP10-1, TSPEAR (D159Y)	Single nucleotide variant (missense variant +1 more)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	GBenign
Select item 2687865	NM_005475.3(SH2B3):c.1493T>C (p.Leu498Pro)	SH2B3 (L296P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer	GLikely benign
Select item 2687864	NM_004628.5(XPC):c.2348C>T (p.Ala783Val)	XPC (A590V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer	GLikely benign
Select item 2687863	NM_001018115.3(FANCD2):c.3278T>A (p.Val1093Asp)	FANCD2, FANCD2OS (V1056D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer	GLikely benign
Select item 2687862	NM_022055.2(KCNK12):c.*8538C>T	KCNK12, MSH2 (G449R +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer	GLikely benign
Select item 2687861	NM_006812.4(OS9):c.993+5G>A	OS9	Single nucleotide variant (intron variant)	Hereditary cancer	GLikely benign
Select item 2687860	NM_001301202.2(RASAL1):c.1775G>A (p.Arg592His)	RASAL1 (R370H +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer	GLikely benign
Select item 2579714	NM_015021.3(ZNF292):c.8026G>A (p.Asp2676Asn)	ZNF292 (D2536N +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GBenign
Select item 2453410	NM_000245.4(MET):c.2255C>A (p.Ser752Tyr)	MET (S322Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2441767	NM_001144061.2(COPB1):c.-57-2A>G	COPB1	Single nucleotide variant (splice acceptor variant)	Baralle-Macken syndrome	GConflicting classifications of pathogenicity
Select item 2419100	NM_004614.5(TK2):c.557C>G (p.Pro186Arg)	TK2 (P137R +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2347235	NM_015278.5(SASH1):c.2642C>T (p.Pro881Leu)	SASH1 (P764L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2072406	NM_002875.5(RAD51):c.671C>G (p.Ala224Gly)	RAD51 (A224G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer +2 more	GConflicting classifications of pathogenicity
Select item 1947813	NM_015836.4(WARS2):c.37T>C (p.Trp13Arg)	LOC129931299, WARS2 +1 more (W13R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1929998	NM_000179.3(MSH6):c.1048G>A (p.Ala350Thr)	MSH6 (A324T +8 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1909124	NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)	BLM (S714C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer +2 more	GConflicting classifications of pathogenicity
Select item 1774857	NM_000245.4(MET):c.1541C>T (p.Pro514Leu)	MET (P84L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer +1 more	GUncertain significance
Select item 1704650	NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs)	USH2A (S134fs)	Indel (frameshift variant)	Usher syndrome type 2A	GPathogenic
Select item 1701142	NM_000314.8(PTEN):c.-513G>C	PTEN (R3P)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN-related condition +2 more	GBenign/Likely benign
Select item 1686633	NM_001346810.2(DLGAP2):c.779A>C (p.Asp260Ala)	DLGAP2 (D260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686632	NM_001321075.3(DLG4):c.1271G>A (p.Arg424Gln)	DLG4, LOC126862479 (R364Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1686631	NM_001321075.3(DLG4):c.1427T>G (p.Val476Gly)	DLG4 (V416G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1686630	NM_021120.4(DLG3):c.1879G>T (p.Ala627Ser)	DLG3 (A176S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686629	NM_001931.5(DLAT):c.1474C>G (p.Pro492Ala)	DLAT (P338A +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1686628	NM_001931.5(DLAT):c.788-5T>A	DLAT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1686627	NM_018662.3(DISC1):c.1453C>T (p.Gln485Ter)	DISC1, TSNAX-DISC1 (Q135* +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 1686626	NM_018662.3(DISC1):c.109C>T (p.Arg37Trp)	DISC1, TSNAX-DISC1 (R37W)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 1686625	NM_015151.4(DIP2A):c.4682A>G (p.Gln1561Arg)	DIP2A (Q1557R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686624	NM_007294.4(BRCA1):c.4675+55A>G	BRCA1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1686623	NM_001042517.2(DIAPH3):c.3265C>T (p.Arg1089Trp)	DIAPH3 (R1019W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686622	NM_005219.5(DIAPH1):c.3706G>T (p.Glu1236Ter)	DIAPH1 (E1227* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 1686621	NM_014003.4(DHX38):c.967G>A (p.Asp323Asn)	DHX38 (D323N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1686620	NM_032656.4(DHX37):c.346_347del (p.Thr116fs)	DHX37 (T116fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1686619	NM_138615.3(DHX30):c.2387C>G (p.Pro796Arg)	DHX30 (P757R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1686618	NM_205861.3(DHDDS):c.438C>G (p.Asn146Lys)	DHDDS (N146K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1686617	NM_021008.4(DEAF1):c.1034G>C (p.Gly345Ala)	DEAF1 (G103A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686616	NM_004397.6(DDX6):c.1031C>G (p.Ser344Cys)	DDX6 (S344C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686615	NM_030653.4(DDX11):c.767G>A (p.Arg256Gln)	DDX11 (R230Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1686614	NM_015726.4(DCAF8):c.723+43G>T	DCAF8	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1686613	NM_000784.4(CYP27A1):c.563G>C (p.Arg188Pro)	CYP27A1 (R188P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686612	NM_181552.4(CUX1):c.1361C>T (p.Ala454Val)	CUX1 (A454V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1686611	NM_001079872.2(CUL4B):c.2482A>G (p.Arg828Gly)	CUL4B (R650G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686610	NM_000396.4(CTSK):c.243+4A>T	CTSK	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1686609	NM_001908.5(CTSB):c.615del (p.Lys206fs)	CTSB (K206fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1686608	NM_001332.4(CTNND2):c.2137C>T (p.Arg713Cys)	CTNND2 (R280C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1686607	NM_006565.4(CTCF):c.37T>G (p.Ser13Ala)	CTCF (S13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1686606	NM_022048.5(CSNK1G1):c.80G>A (p.Arg27Gln)	CSNK1G1 (R27Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686605	NM_182641.4(BPTF):c.581T>G (p.Phe194Cys)	BPTF, LOC130061496 (F194C)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1686604	NM_033225.6(CSMD1):c.4892G>C (p.Gly1631Ala)	CSMD1 (G1631A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686603	NM_016441.3(CRIM1):c.881T>C (p.Leu294Pro)	CRIM1 (L294P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686602	NM_001077415.3(CRELD1):c.973G>A (p.Glu325Lys)	CRELD1 (E297K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1686601	NM_001077415.3(CRELD1):c.857C>G (p.Pro286Arg)	CRELD1 (P258R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1686600	NM_004380.3(CREBBP):c.1574-4A>T	CREBBP	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1686599	NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser)	CREBBP (N1124S +1 more)	Single nucleotide variant (missense variant)	CREBBP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1686598	NM_004371.4(COPA):c.3171C>A (p.Cys1057Ter)	COPA (C1057* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1686597	NM_001853.4(COL9A3):c.889A>C (p.Ser297Arg)	COL9A3 (S297R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1686596	NM_001853.4(COL9A3):c.104G>A (p.Gly35Asp)	COL9A3 (G35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686595	NM_001852.4(COL9A2):c.239C>A (p.Pro80His)	COL9A2 (P80H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686594	NM_001851.6(COL9A1):c.913-5C>G	COL9A1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1686593	NM_001851.6(COL9A1):c.2629C>T (p.Arg877Ter)	COL9A1 (R585* +3 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 1686592	NM_000094.4(COL7A1):c.5413C>T (p.Pro1805Ser)	COL7A1, MIR711 (P1805S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1686591	NM_000094.4(COL7A1):c.6130C>T (p.Leu2044Phe)	COL7A1 (L2044F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686590	NM_000094.4(COL7A1):c.6652-3del	COL7A1	Deletion (intron variant)	not specified	GUncertain significance
Select item 1686589	NM_000094.4(COL7A1):c.6826G>A (p.Val2276Met)	COL7A1 (V2276M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1686588	NM_000094.4(COL7A1):c.7759G>A (p.Gly2587Ser)	COL7A1 (G2587S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686587	NM_033380.3(COL4A5):c.379A>G (p.Thr127Ala)	COL4A5 (T127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686586	NM_000057.4(BLM):c.1317G>T (p.Met439Ile)	BLM (M439I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1686585	NM_001846.4(COL4A2):c.3126del (p.Gly1043fs)	COL4A2 (G1043fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1686584	NM_001846.4(COL4A2):c.726+4A>G	COL4A2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1686583	NM_000090.4(COL3A1):c.1462C>T (p.Pro488Ser)	COL3A1 (P488S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686582	NM_001844.5(COL2A1):c.3455G>A (p.Gly1152Asp)	COL2A1 (G1083D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1686581	NM_000057.4(BLM):c.1087+47T>C	BLM	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1686580	NM_000089.4(COL1A2):c.139C>A (p.Pro47Thr)	COL1A2 (P47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686579	NM_000088.4(COL1A1):c.884A>G (p.Asn295Ser)	COL1A1, LOC126862586 (N295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686578	NM_001854.4(COL11A1):c.3365C>A (p.Pro1122His)	COL11A1 (P1006H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1686577	NM_000493.4(COL10A1):c.757G>A (p.Gly253Ser)	COL10A1, NT5DC1 (G253S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1686576	NM_004859.4(CLTC):c.3765+3A>C	CLTC	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1686575	NM_006831.3(CLP1):c.413C>T (p.Ala138Val)	CLP1 (A138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686574	NM_018941.4(CLN8):c.861G>C (p.Ter287Tyr)	CLN8	Single nucleotide variant (stop lost)	not specified	GUncertain significance
Select item 1686573	NM_001127898.4(CLCN5):c.2168G>C (p.Gly723Ala)	CLCN5, LOC126863258 (G653A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1686572	NM_001127898.4(CLCN5):c.1027T>C (p.Phe343Leu)	CLCN5 (F273L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686571	NM_000083.3(CLCN1):c.2508+5G>A	CLCN1	Single nucleotide variant (intron variant)	Congenital myotonia, autosomal dominant form +2 more	GUncertain significance
Select item 1686570	NM_014920.5(CILK1):c.478_479dup (p.Ser161fs)	CILK1 (S161fs)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1686569	NM_001386298.1(CIC):c.7510del (p.Ser2504fs)	CIC (S1592fs +4 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1686568	NM_013447.4(ADGRE2):c.2235G>A (p.Trp745Ter)	ADGRE2 (W687* +1 more)	Single nucleotide variant (nonsense)	not specified	GBenign
Select item 1686567	NM_001386298.1(CIC):c.133G>A (p.Asp45Asn)	CIC (D45N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1686566	NM_000080.4(CHRNE):c.252A>G (p.Arg84=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1686565	NM_000079.4(CHRNA1):c.436_437insTG (p.Ser146fs)	CHRNA1 (S146fs +1 more)	Insertion (frameshift variant)	not specified	GUncertain significance
Select item 1686564	NM_001273.5(CHD4):c.4676C>G (p.Pro1559Arg)	CHD4 (P1546R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686563	NM_001271.4(CHD2):c.2308C>A (p.Pro770Thr)	CHD2 (P770T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686562	NM_001271.4(CHD2):c.190T>A (p.Ser64Thr)	CHD2 (S64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686561	NM_017693.4(BIVM):c.244A>G (p.Ile82Val)	BIVM, BIVM-ERCC5 (I82V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1686560	NM_000492.4(CFTR):c.1614T>A (p.Asn538Lys)	CFTR, LOC111674475 (N538K)	Single nucleotide variant (missense variant)	Cystic fibrosis +1 more	GUncertain significance

<< First< Prev

Page of 128