ClinVar for Gene (Select 9533) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234438	NM_019096.5(GTPBP2):c.45C>G (p.Pro15=)	GTPBP2, LOC129996523 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3233753	NM_178148.4(SLC35B2):c.618C>T (p.Phe206=)	POLR1C, SLC35B2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3233752	NM_178148.4(SLC35B2):c.369T>C (p.Tyr123=)	POLR1C, SLC35B2	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3233721	NM_178148.4(SLC35B2):c.665_666del (p.Pro222fs)	POLR1C, SLC35B2 (P117fs +5 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3229274	NM_152732.5(RSPH9):c.239C>T (p.Thr80Ile)	POLR1C, RSPH9 (T80I)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3229273	NM_152732.5(RSPH9):c.159C>G (p.Leu53=)	POLR1C, RSPH9	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3216454	NM_203290.4(POLR1C):c.689C>T (p.Thr230Ile)	POLR1C (T230I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216453	NM_203290.4(POLR1C):c.622A>G (p.Ile208Val)	POLR1C (I208V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216346	NM_006502.3(POLH):c.950A>G (p.Lys317Arg)	POLH, POLR1C (K317R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3216345	NM_006502.3(POLH):c.767G>A (p.Arg256His)	POLH, POLR1C (R132H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3216344	NM_006502.3(POLH):c.727G>T (p.Val243Phe)	POLH, POLR1C (V243F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3216343	NM_006502.3(POLH):c.701G>A (p.Arg234His)	POLH, POLR1C (R234H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3216342	NM_006502.3(POLH):c.1940T>G (p.Met647Arg)	POLH, POLR1C (M523R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3216340	NM_006502.3(POLH):c.1936G>T (p.Asp646Tyr)	POLH, POLR1C (D646Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3216339	NM_006502.3(POLH):c.1484A>C (p.Glu495Ala)	POLH, POLR1C (E495A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3216338	NM_006502.3(POLH):c.146C>T (p.Ala49Val)	POLH, POLR1C (A49V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3216337	NM_006502.3(POLH):c.1393G>C (p.Gly465Arg)	POLH, POLR1C (G341R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3208816	NM_018135.4(MRPS18A):c.517C>G (p.Arg173Gly)	MRPS18A, POLR1C +1 more (R173G)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3208808	NM_018135.4(MRPS18A):c.502C>G (p.Arg168Gly)	MRPS18A, POLR1C +1 more (R168G)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3208802	NM_018135.4(MRPS18A):c.482C>T (p.Pro161Leu)	MRPS18A, POLR1C +1 more (P161L)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3208800	NM_018135.4(MRPS18A):c.475G>A (p.Val159Ile)	MRPS18A, POLR1C +1 more (V159I)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3208785	NM_018135.4(MRPS18A):c.371G>A (p.Arg124Gln)	MRPS18A, POLR1C (R124Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208781	NM_018135.4(MRPS18A):c.311T>A (p.Ile104Asn)	MRPS18A, POLR1C (I104N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206788	NM_032111.4(MRPL14):c.383G>A (p.Arg128His)	MRPL14, POLR1C (R139H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206784	NM_032111.4(MRPL14):c.359A>G (p.Lys120Arg)	MRPL14, POLR1C (K131R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206778	NM_032111.4(MRPL14):c.208G>A (p.Gly70Ser)	MRPL14, POLR1C (G123S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198071	NM_004556.3(NFKBIE):c.556C>T (p.Arg186Trp)	NFKBIE, POLR1C (R186W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198067	NM_004556.3(NFKBIE):c.542G>C (p.Arg181Pro)	NFKBIE, POLR1C (R181P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198053	NM_004556.3(NFKBIE):c.168G>T (p.Lys56Asn)	NFKBIE, POLR1C (K56N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198046	NM_004556.3(NFKBIE):c.-12A>G	NFKBIE, POLR1C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3198041	NM_004556.3(NFKBIE):c.-54A>C	NFKBIE, POLR1C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3198035	NM_004556.3(NFKBIE):c.-68A>T	NFKBIE, POLR1C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3191248	NM_020750.3(XPO5):c.716C>T (p.Ser239Phe)	POLR1C, XPO5 (S239F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191247	NM_020750.3(XPO5):c.3268A>G (p.Met1090Val)	POLR1C, XPO5 (M1090V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191245	NM_020750.3(XPO5):c.3137G>A (p.Arg1046Lys)	POLR1C, XPO5 (R1046K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191244	NM_020750.3(XPO5):c.262G>A (p.Val88Met)	POLR1C, XPO5 (V88M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191243	NM_020750.3(XPO5):c.2210G>C (p.Trp737Ser)	POLR1C, XPO5 (W737S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191242	NM_020750.3(XPO5):c.1424A>T (p.Asp475Val)	POLR1C, XPO5 (D475V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3188436	NM_003376.6(VEGFA):c.986A>G (p.Lys329Arg)	POLR1C, VEGFA (K149R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188435	NM_003376.6(VEGFA):c.954A>T (p.Arg318Ser)	POLR1C, VEGFA (R110S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188434	NM_003376.6(VEGFA):c.703A>G (p.Ile235Val)	POLR1C, VEGFA (I27V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188432	NM_003376.6(VEGFA):c.595C>T (p.His199Tyr)	POLR1C, VEGFA (H199Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188431	NM_003376.6(VEGFA):c.188G>T (p.Arg63Leu)	POLR1C, VEGFA (R63L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3188430	NM_003376.6(VEGFA):c.1153G>A (p.Glu385Lys)	POLR1C, VEGFA (E222K +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188429	NM_003376.6(VEGFA):c.1058G>A (p.Arg353Gln)	POLR1C, VEGFA (R167Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188428	NM_003376.6(VEGFA):c.1003C>A (p.Arg335Ser)	POLR1C, VEGFA (R155S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179590	NM_018426.3(TMEM63B):c.314G>A (p.Arg105Gln)	POLR1C, TMEM63B (R105Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3179589	NM_018426.3(TMEM63B):c.2464G>A (p.Glu822Lys)	POLR1C, TMEM63B (E822K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3179588	NM_018426.3(TMEM63B):c.2441C>T (p.Thr814Met)	POLR1C, TMEM63B (T814M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3179587	NM_018426.3(TMEM63B):c.2131A>G (p.Met711Val)	POLR1C, TMEM63B (M711V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3179586	NM_018426.3(TMEM63B):c.1309A>G (p.Ile437Val)	POLR1C, TMEM63B (I437V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3179585	NM_018426.3(TMEM63B):c.1045C>T (p.Arg349Trp)	POLR1C, TMEM63B (R349W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3178890	NM_001137560.2(TMEM151B):c.89C>T (p.Ala30Val)	POLR1C, TMEM151B (A30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178889	NM_001137560.2(TMEM151B):c.577G>T (p.Val193Phe)	POLR1C, TMEM151B (V193F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178888	NM_001137560.2(TMEM151B):c.479C>T (p.Thr160Met)	POLR1C, TMEM151B (T160M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178887	NM_001137560.2(TMEM151B):c.476C>G (p.Ala159Gly)	POLR1C, TMEM151B (A159G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178886	NM_001137560.2(TMEM151B):c.196C>T (p.Leu66Phe)	POLR1C, TMEM151B (L66F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178885	NM_001137560.2(TMEM151B):c.1378G>T (p.Gly460Cys)	POLR1C, TMEM151B (G460C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178884	NM_001137560.2(TMEM151B):c.1262C>A (p.Pro421Gln)	POLR1C, TMEM151B (P421Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178883	NM_001137560.2(TMEM151B):c.1069C>A (p.Pro357Thr)	POLR1C, TMEM151B (P357T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178882	NM_001137560.2(TMEM151B):c.1016G>T (p.Gly339Val)	TMEM151B, POLR1C (G339V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178881	NM_001137560.2(TMEM151B):c.1015G>A (p.Gly339Ser)	POLR1C, TMEM151B (G339S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175376	NM_182539.4(TCTE1):c.937G>C (p.Asp313His)	POLR1C, TCTE1 (D313H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175375	NM_182539.4(TCTE1):c.757G>A (p.Gly253Ser)	POLR1C, TCTE1 (G253S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175374	NM_182539.4(TCTE1):c.530T>A (p.Ile177Asn)	POLR1C, TCTE1 (I177N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175373	NM_182539.4(TCTE1):c.398G>A (p.Arg133His)	POLR1C, TCTE1 (R133H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175372	NM_182539.4(TCTE1):c.179G>A (p.Arg60Gln)	POLR1C, TCTE1 (R60Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175371	NM_182539.4(TCTE1):c.13G>A (p.Val5Ile)	POLR1C, TCTE1 (V5I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175370	NM_182539.4(TCTE1):c.1267A>T (p.Ile423Phe)	POLR1C, TCTE1 (I423F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175368	NM_182539.4(TCTE1):c.116A>G (p.Lys39Arg)	POLR1C, TCTE1 (K39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175367	NM_182539.4(TCTE1):c.1052C>A (p.Ala351Asp)	POLR1C, TCTE1 (A351D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168675	NM_001372081.1(SPATS1):c.631T>C (p.Tyr211His)	POLR1C, SPATS1 (Y211H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168674	NM_001372081.1(SPATS1):c.514G>A (p.Gly172Ser)	POLR1C, SPATS1 (G172S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168672	NM_001372081.1(SPATS1):c.401A>C (p.Lys134Thr)	POLR1C, SPATS1 (K134T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164339	NM_178148.4(SLC35B2):c.703T>C (p.Tyr235His)	POLR1C, SLC35B2 (Y186H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164338	NM_178148.4(SLC35B2):c.635A>T (p.Gln212Leu)	POLR1C, SLC35B2 (Q107L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164336	NM_178148.4(SLC35B2):c.1252C>T (p.Arg418Trp)	POLR1C, SLC35B2 (R285W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164335	NM_178148.4(SLC35B2):c.1117C>T (p.Leu373Phe)	POLR1C, SLC35B2 (L368F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164334	NM_178148.4(SLC35B2):c.1096G>A (p.Val366Ile)	POLR1C, SLC35B2 (V233I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164333	NM_178148.4(SLC35B2):c.1085T>A (p.Phe362Tyr)	POLR1C, SLC35B2 (F229Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164053	NM_001372327.1(SLC29A1):c.673G>A (p.Gly225Ser)	POLR1C, SLC29A1 (G225S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164052	NM_001372327.1(SLC29A1):c.441C>G (p.Ile147Met)	POLR1C, SLC29A1 (I173M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164051	NM_001372327.1(SLC29A1):c.1337C>T (p.Ala446Val)	POLR1C, SLC29A1 (A446V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164050	NM_001372327.1(SLC29A1):c.1147C>T (p.Arg383Cys)	POLR1C, SLC29A1 (R462C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156749	NM_152732.5(RSPH9):c.805A>G (p.Asn269Asp)	POLR1C, RSPH9 (N269D +3 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3156748	NM_152732.5(RSPH9):c.754G>A (p.Ala252Thr)	POLR1C, RSPH9 (A237T +3 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3156746	NM_152732.5(RSPH9):c.73C>T (p.Arg25Trp)	POLR1C, RSPH9 (R25W)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3156745	NM_152732.5(RSPH9):c.577C>T (p.Pro193Ser)	POLR1C, RSPH9 (P178S +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3156743	NM_152732.5(RSPH9):c.305G>A (p.Arg102His)	POLR1C, RSPH9 (R102H)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3156742	NM_152732.5(RSPH9):c.126T>G (p.Asp42Glu)	POLR1C, RSPH9 (D42E)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3140970	NM_001253.4(CDC5L):c.1853A>C (p.His618Pro)	CDC5L, POLR1C (H618P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140969	NM_001253.4(CDC5L):c.1374C>G (p.Asp458Glu)	CDC5L, POLR1C (D458E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138928	NM_020745.4(AARS2):c.888A>G (p.Ile296Met)	POLR1C, AARS2 (I296M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3138695	NM_020745.4(AARS2):c.487C>T (p.Pro163Ser)	AARS2, POLR1C (P163S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3138500	NM_020745.4(AARS2):c.351C>A (p.Asp117Glu)	AARS2, POLR1C (D117E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3138433	NM_020745.4(AARS2):c.28C>G (p.Arg10Gly)	AARS2, POLR1C (R10G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3138168	NM_020745.4(AARS2):c.2570C>T (p.Thr857Ile)	AARS2, POLR1C (T857I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137534	NM_020745.4(AARS2):c.1885A>G (p.Met629Val)	AARS2, POLR1C (M629V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137265	NM_020745.4(AARS2):c.1627G>A (p.Gly543Arg)	AARS2, POLR1C (G543R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137131	NM_020745.4(AARS2):c.1399G>A (p.Ala467Thr)	AARS2, POLR1C (A467T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign

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