ClinVar for Gene (Select 80312) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3176231	NM_030625.3(TET1):c.778G>A (p.Val260Ile)	TET1 (V260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176230	NM_030625.3(TET1):c.629C>T (p.Ala210Val)	TET1 (A210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176229	NM_030625.3(TET1):c.5654C>T (p.Ser1885Leu)	TET1 (S1214L +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3176228	NM_030625.3(TET1):c.5630G>A (p.Ser1877Asn)	TET1 (S1906N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176227	NM_030625.3(TET1):c.5365A>C (p.Thr1789Pro)	TET1 (T337P +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176226	NM_030625.3(TET1):c.5324A>G (p.Lys1775Arg)	TET1 (K1167R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176225	NM_030625.3(TET1):c.5320G>C (p.Glu1774Gln)	TET1 (E322Q +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176224	NM_030625.3(TET1):c.5270A>G (p.Lys1757Arg)	TET1 (K1086R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176223	NM_030625.3(TET1):c.5249C>T (p.Pro1750Leu)	TET1 (P919L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176222	NM_030625.3(TET1):c.470C>T (p.Ser157Leu)	TET1 (S157L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176221	NM_030625.3(TET1):c.3989T>C (p.Met1330Thr)	TET1 (M659T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176220	NM_030625.3(TET1):c.3982C>A (p.Gln1328Lys)	TET1 (Q1328K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176219	NM_030625.3(TET1):c.3788T>C (p.Leu1263Pro)	TET1 (L592P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176218	NM_030625.3(TET1):c.364G>A (p.Val122Ile)	TET1 (V122I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3176217	NM_030625.3(TET1):c.3518G>T (p.Arg1173Leu)	TET1 (R1173L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176216	NM_030625.3(TET1):c.3502T>G (p.Tyr1168Asp)	TET1 (Y1168D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176215	NM_030625.3(TET1):c.3454T>C (p.Ser1152Pro)	TET1 (S1152P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176214	NM_030625.3(TET1):c.3448A>G (p.Thr1150Ala)	TET1 (T1150A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176213	NM_030625.3(TET1):c.3283C>T (p.Pro1095Ser)	TET1 (P1095S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3176212	NM_030625.3(TET1):c.3205A>T (p.Thr1069Ser)	TET1 (T1069S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176211	NM_030625.3(TET1):c.3162C>G (p.Ser1054Arg)	TET1 (S417R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176210	NM_030625.3(TET1):c.2965G>A (p.Ala989Thr)	TET1 (A989T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176208	NM_030625.3(TET1):c.2961C>A (p.Asn987Lys)	TET1 (N316K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176207	NM_030625.3(TET1):c.2851C>A (p.Pro951Thr)	TET1 (P951T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176206	NM_030625.3(TET1):c.2770G>C (p.Ala924Pro)	TET1 (A924P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176205	NM_030625.3(TET1):c.2746G>T (p.Asp916Tyr)	TET1 (D916Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176204	NM_030625.3(TET1):c.2586A>G (p.Ile862Met)	TET1 (I191M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176203	NM_030625.3(TET1):c.2554G>A (p.Glu852Lys)	TET1 (E181K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176202	NM_030625.3(TET1):c.2255T>G (p.Phe752Cys)	TET1 (F115C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176201	NM_030625.3(TET1):c.2219A>G (p.Glu740Gly)	TET1 (E103G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176200	NM_030625.3(TET1):c.2038G>T (p.Gly680Trp)	TET1 (G43W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176199	NM_030625.3(TET1):c.1822T>G (p.Tyr608Asp)	TET1 (Y608D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176198	NM_030625.3(TET1):c.1043C>G (p.Ala348Gly)	TET1 (A348G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176197	NM_030625.3(TET1):c.103A>G (p.Asn35Asp)	TET1 (N35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176196	NM_030625.3(TET1):c.1022C>T (p.Ala341Val)	TET1 (A341V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058291	NM_030625.3(TET1):c.5106T>C (p.Asp1702=)	TET1	Single nucleotide variant (synonymous variant)	TET1-related disorder	GLikely benign
Select item 3053639	NM_030625.3(TET1):c.2328A>G (p.Lys776=)	TET1	Single nucleotide variant (synonymous variant +1 more)	TET1-related disorder	GBenign
Select item 3052926	NM_030625.3(TET1):c.5496G>A (p.Ser1832=)	TET1	Single nucleotide variant (synonymous variant)	TET1-related disorder	GLikely benign
Select item 3052242	NM_030625.3(TET1):c.3998G>A (p.Arg1333Lys)	TET1 (R1333K +2 more)	Single nucleotide variant (missense variant +1 more)	TET1-related disorder	GLikely benign
Select item 3051357	NM_030625.3(TET1):c.1644C>T (p.Val548=)	TET1	Single nucleotide variant (synonymous variant)	TET1-related disorder	GLikely benign
Select item 3050832	NM_030625.3(TET1):c.4215C>T (p.Asn1405=)	TET1	Single nucleotide variant (synonymous variant +1 more)	TET1-related disorder	GLikely benign
Select item 3046323	NM_030625.3(TET1):c.6084C>T (p.His2028=)	TET1	Single nucleotide variant (synonymous variant)	TET1-related disorder	GLikely benign
Select item 3043946	NM_030625.3(TET1):c.260C>G (p.Thr87Ser)	TET1 (T87S)	Single nucleotide variant (missense variant)	TET1-related disorder	GLikely benign
Select item 3040857	NM_030625.3(TET1):c.5541C>T (p.Gly1847=)	TET1	Single nucleotide variant (synonymous variant)	TET1-related disorder	GLikely benign
Select item 3038984	NM_030625.3(TET1):c.5916C>T (p.Asp1972=)	TET1	Single nucleotide variant (synonymous variant)	TET1-related disorder	GLikely benign
Select item 3035220	NM_030625.3(TET1):c.732T>C (p.Ala244=)	TET1	Single nucleotide variant (synonymous variant)	TET1-related disorder	GLikely benign
Select item 3033232	NM_030625.3(TET1):c.2298A>G (p.Leu766=)	TET1	Single nucleotide variant (synonymous variant +1 more)	TET1-related disorder	GLikely benign
Select item 2690229	NM_030625.3(TET1):c.5716G>A (p.Glu1906Lys)	TET1 (E1075K +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2672398	NM_030625.3(TET1):c.5422G>A (p.Val1808Met)	TET1 (V1006M +8 more)	Single nucleotide variant (missense variant)	TET1-related disorder +1 more	GLikely benign
Select item 2640534	NM_030625.3(TET1):c.5053-3C>T	TET1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2640533	NM_030625.3(TET1):c.2823C>T (p.Leu941=)	TET1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640532	NM_030625.3(TET1):c.775A>G (p.Lys259Glu)	TET1 (K259E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619707	NM_030625.3(TET1):c.1454A>C (p.Lys485Thr)	TET1 (K485T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619011	NM_030625.3(TET1):c.5994G>C (p.Glu1998Asp)	TET1 (E1327D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615541	NM_030625.3(TET1):c.418T>C (p.Cys140Arg)	TET1 (C140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612581	NM_030625.3(TET1):c.2774G>A (p.Ser925Asn)	TET1 (S288N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591957	NM_030625.3(TET1):c.253G>A (p.Asp85Asn)	TET1 (D85N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2570395	NM_030625.3(TET1):c.3473G>A (p.Arg1158Gln)	TET1 (R1158Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560949	NM_030625.3(TET1):c.2030G>A (p.Cys677Tyr)	TET1 (C40Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543368	NM_030625.3(TET1):c.3840A>C (p.Lys1280Asn)	TET1 (K1280N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538129	NM_030625.3(TET1):c.2760G>T (p.Glu920Asp)	TET1 (E283D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538127	NM_030625.3(TET1):c.2759A>C (p.Glu920Ala)	TET1 (E283A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530322	NM_030625.3(TET1):c.5362A>G (p.Thr1788Ala)	TET1 (T1117A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530321	NM_030625.3(TET1):c.2372A>T (p.Tyr791Phe)	TET1 (Y154F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529247	NM_030625.3(TET1):c.830T>C (p.Val277Ala)	TET1 (V277A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524133	NM_030625.3(TET1):c.5060C>G (p.Thr1687Ser)	TET1 (T1016S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520236	NM_030625.3(TET1):c.5173A>G (p.Met1725Val)	TET1 (M1117V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519196	NM_030625.3(TET1):c.3826G>A (p.Ala1276Thr)	TET1 (A1276T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512299	NM_030625.3(TET1):c.3062T>C (p.Ile1021Thr)	TET1 (I384T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496487	NM_030625.3(TET1):c.5891C>T (p.Ser1964Phe)	TET1 (S541F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494555	NM_030625.3(TET1):c.3091T>C (p.Cys1031Arg)	TET1 (C1031R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483811	NM_030625.3(TET1):c.5776C>G (p.Pro1926Ala)	TET1 (P1124A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482580	NM_030625.3(TET1):c.4317C>G (p.His1439Gln)	TET1 (H768Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482229	NM_030625.3(TET1):c.38T>C (p.Val13Ala)	TET1 (V13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476211	NM_030625.3(TET1):c.419G>A (p.Cys140Tyr)	TET1 (C140Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467802	NM_030625.3(TET1):c.4085G>A (p.Gly1362Asp)	TET1 (G1362D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463672	NM_030625.3(TET1):c.3866C>T (p.Thr1289Met)	TET1 (T618M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2428722	NM_030625.3(TET1):c.3974T>A (p.Val1325Asp)	TET1 (V1325D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412032	NM_030625.3(TET1):c.1277T>C (p.Val426Ala)	TET1 (V426A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408924	NM_030625.3(TET1):c.5234C>T (p.Thr1745Met)	TET1 (T1103M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400365	NM_030625.3(TET1):c.3214C>A (p.Gln1072Lys)	TET1 (Q435K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399271	NM_030625.3(TET1):c.1897G>A (p.Val633Ile)	TET1 (V633I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398986	NM_030625.3(TET1):c.664C>T (p.Arg222Cys)	TET1 (R222C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390551	NM_030625.3(TET1):c.3508G>C (p.Glu1170Gln)	TET1 (E499Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381550	NM_030625.3(TET1):c.2164G>T (p.Val722Leu)	TET1 (V722L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377905	NM_030625.3(TET1):c.2164G>A (p.Val722Met)	TET1 (V51M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365938	NM_030625.3(TET1):c.3545T>G (p.Met1182Arg)	TET1 (M1182R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357601	NM_030625.3(TET1):c.5509G>A (p.Ala1837Thr)	TET1 (A1035T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353616	NM_030625.3(TET1):c.2464G>A (p.Val822Ile)	TET1 (V822I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350762	NM_030625.3(TET1):c.4040C>G (p.Pro1347Arg)	TET1 (P676R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344589	NM_030625.3(TET1):c.176A>G (p.Lys59Arg)	TET1 (K59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337175	NM_030625.3(TET1):c.1150G>T (p.Val384Phe)	TET1 (V384F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332361	NM_030625.3(TET1):c.2029T>A (p.Cys677Ser)	TET1 (C6S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331443	NM_030625.3(TET1):c.2198C>T (p.Ala733Val)	TET1 (A733V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324826	NM_030625.3(TET1):c.4046C>T (p.Ser1349Leu)	TET1 (S678L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324284	NM_030625.3(TET1):c.5687C>T (p.Ala1896Val)	TET1 (A1288V +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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