4-Pyrimidinethiol, 6- (methyl amino) - ClinVar - NCBI

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The following term was not found in ClinVar: Pyrimidinethiol.
Showing results for 4-Pyrimidinethiol, 6-(methylamino)-. Your search for 4-Pyrimidinethiol, 6-(methylamino)- retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response
Select item 1327464	NM_005518.4(HMGCS2):c.821G>A (p.Arg274His)	HMGCS2 (R232H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2628076	NM_005518.4(HMGCS2):c.164G>A (p.Gly55Asp)	HMGCS2 (G55D)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely pathogenic
Select item 206057	NM_001378120.1(MBD5):c.205A>G (p.Ile69Val)	MBD5 (I69V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 206058	NM_001378120.1(MBD5):c.488A>G (p.Glu163Gly)	MBD5 (E163G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206059	NM_001378120.1(MBD5):c.520T>A (p.Ser174Thr)	MBD5 (S174T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 206060	NM_001378120.1(MBD5):c.644G>A (p.Arg215His)	MBD5 (R215H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 206061	NM_001378120.1(MBD5):c.740C>T (p.Pro247Leu)	MBD5 (P247L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206076	NM_001378120.1(MBD5):c.1963G>A (p.Ala655Thr)	MBD5 (A655T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 206078	NM_001378120.1(MBD5):c.1999T>A (p.Leu667Met)	MBD5 (L667M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GUncertain significance
Select item 206079	NM_001378120.1(MBD5):c.2000T>G (p.Leu667Trp)	MBD5 (L667W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206083	NM_001378120.1(MBD5):c.2257C>A (p.Pro753Thr)	MBD5 (P753T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206085	NM_001378120.1(MBD5):c.2413A>C (p.Asn805His)	MBD5 (N805H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206086	NM_001378120.1(MBD5):c.2431C>A (p.Pro811Thr)	MBD5 (P811T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206114	NM_001378120.1(MBD5):c.2632C>G (p.Pro878Ala)	MBD5 (P878A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206088	NM_001378120.1(MBD5):c.2645A>T (p.Gln882Leu)	MBD5 (Q882L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 193727	NM_001378120.1(MBD5):c.2840G>A (p.Gly947Glu)	MBD5 (G947E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1152961	NM_001378120.1(MBD5):c.3642A>T (p.Gln1214His)	MBD5 (Q1214H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 206091	NM_001378120.1(MBD5):c.3680C>T (p.Ala1227Val)	MBD5 (A994V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206093	NM_001378120.1(MBD5):c.3786C>G (p.Asn1262Lys)	MBD5 (N1029K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 206096	NM_001378120.1(MBD5):c.3904C>A (p.Gln1302Lys)	MBD5 (Q1069K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GUncertain significance
Select item 206098	NM_001378120.1(MBD5):c.4060A>G (p.Ser1354Gly)	MBD5 (S1121G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206099	NM_001378120.1(MBD5):c.4075T>C (p.Phe1359Leu)	MBD5 (F1126L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206103	NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val)	MBD5 (D1180V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 206107	NM_001378120.1(MBD5):c.4837C>T (p.Pro1613Ser)	MBD5 (P1380S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 156230	NM_001134665.3(TRMT10A):c.616G>A (p.Gly206Arg)	TRMT10A (G206R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 3117278	NM_032438.4(L3MBTL3):c.26G>A (p.Ser9Asn)	L3MBTL3 (S9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384349	NM_032438.4(L3MBTL3):c.26G>C (p.Ser9Thr)	L3MBTL3 (S9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298057	NM_032438.4(L3MBTL3):c.412T>G (p.Tyr138Asp)	L3MBTL3 (Y113D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483645	NM_032438.4(L3MBTL3):c.419G>A (p.Ser140Asn)	L3MBTL3 (S115N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461018	NM_032438.4(L3MBTL3):c.485A>G (p.Asn162Ser)	L3MBTL3 (N137S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303936	NM_032438.4(L3MBTL3):c.512G>A (p.Arg171Gln)	L3MBTL3 (R146Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620292	NM_032438.4(L3MBTL3):c.573T>G (p.Asp191Glu)	L3MBTL3 (D166E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485229	NM_032438.4(L3MBTL3):c.590A>G (p.Lys197Arg)	L3MBTL3 (K172R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548346	NM_032438.4(L3MBTL3):c.617C>T (p.Ser206Leu)	L3MBTL3 (S181L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117279	NM_032438.4(L3MBTL3):c.646G>T (p.Asp216Tyr)	L3MBTL3 (D191Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520092	NM_032438.4(L3MBTL3):c.650C>T (p.Ser217Leu)	L3MBTL3 (S192L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241045	NM_032438.4(L3MBTL3):c.666G>T (p.Gln222His)	L3MBTL3 (Q197H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302659	NM_032438.4(L3MBTL3):c.718G>A (p.Glu240Lys)	L3MBTL3 (E240K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363009	NM_032438.4(L3MBTL3):c.728C>T (p.Ala243Val)	L3MBTL3 (A218V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535514	NM_032438.4(L3MBTL3):c.740C>T (p.Pro247Leu)	L3MBTL3 (P247L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368863	NM_032438.4(L3MBTL3):c.754A>C (p.Lys252Gln)	L3MBTL3 (K227Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250303	NM_032438.4(L3MBTL3):c.817G>A (p.Val273Met)	L3MBTL3 (V248M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117280	NM_032438.4(L3MBTL3):c.914A>G (p.Tyr305Cys)	L3MBTL3 (Y305C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117281	NM_032438.4(L3MBTL3):c.935A>G (p.Asp312Gly)	L3MBTL3 (D312G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516787	NM_032438.4(L3MBTL3):c.976G>A (p.Gly326Ser)	L3MBTL3 (G301S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117273	NM_032438.4(L3MBTL3):c.1012G>C (p.Glu338Gln)	L3MBTL3 (E313Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117274	NM_032438.4(L3MBTL3):c.1106C>T (p.Ser369Leu)	L3MBTL3 (S344L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360929	NM_032438.4(L3MBTL3):c.1162A>G (p.Ile388Val)	L3MBTL3 (I363V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321497	NM_032438.4(L3MBTL3):c.1253C>T (p.Ala418Val)	L3MBTL3 (A418V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117275	NM_032438.4(L3MBTL3):c.1297A>G (p.Arg433Gly)	L3MBTL3 (R433G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316955	NM_032438.4(L3MBTL3):c.1366G>A (p.Glu456Lys)	L3MBTL3 (E431K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532432	NM_032438.4(L3MBTL3):c.1411C>T (p.Pro471Ser)	L3MBTL3 (P446S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303844	NM_032438.4(L3MBTL3):c.1429A>G (p.Lys477Glu)	L3MBTL3 (K452E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117276	NM_032438.4(L3MBTL3):c.1435A>G (p.Met479Val)	L3MBTL3 (M454V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479920	NM_032438.4(L3MBTL3):c.1447G>A (p.Val483Ile)	L3MBTL3 (V458I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342289	NM_032438.4(L3MBTL3):c.1468A>G (p.Met490Val)	L3MBTL3 (M465V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257420	NM_032438.4(L3MBTL3):c.1547A>G (p.Tyr516Cys)	L3MBTL3 (Y491C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117277	NM_032438.4(L3MBTL3):c.1607C>T (p.Thr536Ile)	L3MBTL3 (T536I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469158	NM_032438.4(L3MBTL3):c.1780C>T (p.Arg594Cys)	L3MBTL3 (R569C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286382	NM_032438.4(L3MBTL3):c.1781G>A (p.Arg594His)	L3MBTL3 (R569H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589006	NM_032438.4(L3MBTL3):c.1930A>C (p.Thr644Pro)	L3MBTL3 (T619P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297660	NM_032438.4(L3MBTL3):c.2057G>A (p.Arg686His)	L3MBTL3 (R661H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542263	NM_032438.4(L3MBTL3):c.2092G>T (p.Ala698Ser)	L3MBTL3 (A673S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479627	NM_032438.4(L3MBTL3):c.2243T>C (p.Ile748Thr)	L3MBTL3 (I748T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 36292	NM_000518.5(HBB):c.-50A>C	HBB, LOC106099062 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GPathogenic
Select item 384097	NM_000019.4(ACAT1):c.85G>T (p.Val29Leu)	ACAT1 (V29L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198030	NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	ACAT1 (N158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1091085	NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)	ACAT1 (T168A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 666490	NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)	ACAT1 (M193R)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 3124065	NM_052897.4(MBD6):c.386G>A (p.Gly129Glu)	MBD6 (G129E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618976	NM_052897.4(MBD6):c.469C>A (p.Leu157Ile)	MBD6 (L157I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124066	NM_052897.4(MBD6):c.555C>A (p.Phe185Leu)	MBD6 (F185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354996	NM_052897.4(MBD6):c.652C>T (p.Pro218Ser)	MBD6 (P218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616616	NM_052897.4(MBD6):c.763C>G (p.Pro255Ala)	MBD6 (P255A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483572	NM_052897.4(MBD6):c.806C>T (p.Pro269Leu)	MBD6 (P269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330793	NM_052897.4(MBD6):c.821C>G (p.Pro274Arg)	MBD6 (P274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402412	NM_052897.4(MBD6):c.832C>T (p.Leu278Phe)	MBD6 (L278F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391679	NM_052897.4(MBD6):c.899T>A (p.Val300Asp)	MBD6 (V300D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391680	NM_052897.4(MBD6):c.902T>A (p.Leu301Gln)	MBD6 (L301Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287551	NM_052897.4(MBD6):c.926C>T (p.Thr309Met)	MBD6 (T309M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287181	NM_052897.4(MBD6):c.950C>T (p.Pro317Leu)	MBD6 (P317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124068	NM_052897.4(MBD6):c.963C>G (p.Ser321Arg)	MBD6 (S321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327229	NM_052897.4(MBD6):c.1037C>T (p.Pro346Leu)	MBD6 (P346L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307241	NM_052897.4(MBD6):c.1109C>T (p.Pro370Leu)	MBD6 (P370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620151	NM_052897.4(MBD6):c.1169G>C (p.Arg390Pro)	MBD6 (R390P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236380	NM_052897.4(MBD6):c.1169G>A (p.Arg390Gln)	MBD6 (R390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391763	NM_052897.4(MBD6):c.1193C>G (p.Pro398Arg)	MBD6 (P398R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355163	NM_052897.4(MBD6):c.1193C>A (p.Pro398His)	MBD6 (P398H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297993	NM_052897.4(MBD6):c.1201C>T (p.Leu401Phe)	MBD6 (L401F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243106	NM_052897.4(MBD6):c.1262C>T (p.Pro421Leu)	MBD6 (P421L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124055	NM_052897.4(MBD6):c.1356G>C (p.Gln452His)	MBD6 (Q452H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527564	NM_052897.4(MBD6):c.2108C>G (p.Pro703Arg)	MBD6 (P703R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611638	NM_052897.4(MBD6):c.2203C>G (p.Leu735Val)	MBD6 (L735V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 37974	NM_000059.4(BRCA2):c.5575A>G (p.Ile1859Val)	BRCA2 (I1859V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 3117287	NM_001330559.2(L3MBTL4):c.304T>G (p.Cys102Gly)	L3MBTL4 (C102G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208164	NM_001330559.2(L3MBTL4):c.304T>A (p.Cys102Ser)	L3MBTL4 (C102S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529145	NM_001330559.2(L3MBTL4):c.267A>C (p.Arg89Ser)	L3MBTL4 (R89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354417	NM_015846.4(MBD1):c.487G>T (p.Ala163Ser)	MBD1 (A163S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 142266	NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)	CHEK2 (D311N +3 more)	Single nucleotide variant (missense variant)	Bone osteosarcoma +7 more	GConflicting classifications of pathogenicity

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