ClinVar for Gene (Select 4863) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300733	NM_002519.3(NPAT):c.118C>T (p.His40Tyr)	NPAT (H40Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300732	NM_002519.3(NPAT):c.3161C>T (p.Pro1054Leu)	NPAT (P1061L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300731	NM_002519.3(NPAT):c.4145C>G (p.Ser1382Cys)	NPAT (S1382C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300730	NM_002519.3(NPAT):c.3275C>G (p.Ala1092Gly)	NPAT (A1099G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300729	NM_002519.3(NPAT):c.3123A>C (p.Glu1041Asp)	NPAT (E1041D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300728	NM_002519.3(NPAT):c.3006T>C (p.Cys1002=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300727	NM_002519.3(NPAT):c.4002A>T (p.Thr1334=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300726	NM_002519.3(NPAT):c.75G>C (p.Gln25His)	NPAT (Q25H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300725	NM_002519.3(NPAT):c.142C>G (p.Pro48Ala)	NPAT (P48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300724	NM_002519.3(NPAT):c.3805C>A (p.Arg1269=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300723	NM_002519.3(NPAT):c.4117G>C (p.Glu1373Gln)	NPAT (E1373Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300722	NM_002519.3(NPAT):c.683C>T (p.Thr228Ile)	NPAT (T228I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300721	NM_002519.3(NPAT):c.3658G>T (p.Val1220Leu)	NPAT (V1227L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300720	NM_002519.3(NPAT):c.4208A>C (p.Lys1403Thr)	NPAT (K1410T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300719	NM_002519.3(NPAT):c.2856T>C (p.Ser952=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300718	NM_002519.3(NPAT):c.1730A>G (p.Lys577Arg)	NPAT (K577R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300717	NM_002519.3(NPAT):c.1109G>T (p.Gly370Val)	NPAT (G370V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300716	NM_002519.3(NPAT):c.1561A>G (p.Asn521Asp)	NPAT (N521D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300715	NM_002519.3(NPAT):c.600A>G (p.Lys200=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300713	NM_002519.3(NPAT):c.2776T>A (p.Phe926Ile)	NPAT (F926I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300712	NM_002519.3(NPAT):c.2905C>T (p.Leu969Phe)	NPAT (L969F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300711	NM_002519.3(NPAT):c.888T>C (p.Asp296=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300710	NM_002519.3(NPAT):c.1417A>C (p.Asn473His)	NPAT (N473H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300709	NM_002519.3(NPAT):c.3496A>G (p.Asn1166Asp)	NPAT (N1166D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300708	NM_002519.3(NPAT):c.3338A>G (p.Asn1113Ser)	NPAT (N1113S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300707	NM_002519.3(NPAT):c.3660A>G (p.Val1220=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300706	NM_002519.3(NPAT):c.4084T>A (p.Ser1362Thr)	NPAT (S1362T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300705	NM_002519.3(NPAT):c.3825A>G (p.Ala1275=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300704	NM_002519.3(NPAT):c.1222C>T (p.Leu408Phe)	NPAT (L408F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300703	NM_002519.3(NPAT):c.1489G>A (p.Glu497Lys)	NPAT (E497K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300702	NM_002519.3(NPAT):c.3215C>G (p.Pro1072Arg)	NPAT (P1079R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300701	NM_002519.3(NPAT):c.2400A>C (p.Val800=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300700	NM_002519.3(NPAT):c.2389G>A (p.Gly797Ser)	NPAT (G797S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300699	NM_002519.3(NPAT):c.430T>A (p.Ser144Thr)	NPAT (S144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300698	NM_002519.3(NPAT):c.905C>G (p.Pro302Arg)	NPAT (P302R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300697	NM_002519.3(NPAT):c.1606C>G (p.Gln536Glu)	NPAT (Q536E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300696	NM_002519.3(NPAT):c.820G>A (p.Asp274Asn)	NPAT (D274N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300695	NM_002519.3(NPAT):c.1886T>C (p.Leu629Pro)	NPAT (L629P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300694	NM_002519.3(NPAT):c.2059C>T (p.Leu687=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300693	NM_002519.3(NPAT):c.2181C>G (p.Asn727Lys)	NPAT (N727K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300692	NM_002519.3(NPAT):c.2165A>G (p.Asp722Gly)	NPAT (D722G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300691	NM_002519.3(NPAT):c.1042T>A (p.Ser348Thr)	NPAT (S348T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300690	NM_002519.3(NPAT):c.1728C>G (p.His576Gln)	NPAT (H576Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300689	NM_002519.3(NPAT):c.2893C>G (p.Pro965Ala)	NPAT (P965A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300688	NM_002519.3(NPAT):c.3761G>A (p.Ser1254Asn)	NPAT (S1254N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300687	NM_002519.3(NPAT):c.1010C>T (p.Thr337Ile)	NPAT (T337I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300686	NM_002519.3(NPAT):c.3813T>C (p.Pro1271=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300685	NM_002519.3(NPAT):c.2731A>C (p.Arg911=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300684	NM_002519.3(NPAT):c.1236C>T (p.Asp412=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300683	NM_002519.3(NPAT):c.439T>G (p.Phe147Val)	NPAT (F147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300682	NM_002519.3(NPAT):c.3626A>G (p.Lys1209Arg)	NPAT (K1209R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300681	NM_002519.3(NPAT):c.1466C>G (p.Ser489Cys)	NPAT (S489C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300680	NM_002519.3(NPAT):c.2093G>C (p.Ser698Thr)	NPAT (S698T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300679	NM_002519.3(NPAT):c.2648G>A (p.Ser883Asn)	NPAT (S883N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300678	NM_002519.3(NPAT):c.1727A>G (p.His576Arg)	NPAT (H576R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300677	NM_002519.3(NPAT):c.3307G>A (p.Val1103Met)	NPAT (V1110M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300676	NM_002519.3(NPAT):c.1269A>G (p.Ile423Met)	NPAT (I423M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300675	NM_002519.3(NPAT):c.1447A>C (p.Ile483Leu)	NPAT (I483L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300674	NM_002519.3(NPAT):c.3602T>C (p.Ile1201Thr)	NPAT (I1201T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300672	NM_002519.3(NPAT):c.561A>T (p.Gly187=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300671	NM_002519.3(NPAT):c.3871T>A (p.Ser1291Thr)	NPAT (S1291T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300670	NM_002519.3(NPAT):c.1777T>G (p.Ser593Ala)	NPAT (S593A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300669	NM_002519.3(NPAT):c.3473A>T (p.Glu1158Val)	NPAT (E1158V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300668	NM_002519.3(NPAT):c.4107G>A (p.Lys1369=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300667	NM_002519.3(NPAT):c.1990T>A (p.Ser664Thr)	NPAT (S664T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300666	NM_002519.3(NPAT):c.2115T>A (p.Ser705=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300665	NM_002519.3(NPAT):c.1297C>G (p.Pro433Ala)	NPAT (P433A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300664	NM_002519.3(NPAT):c.2344A>G (p.Lys782Glu)	NPAT (K782E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300663	NM_002519.3(NPAT):c.908G>C (p.Ser303Thr)	NPAT (S303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300661	NM_002519.3(NPAT):c.2216C>T (p.Ser739Phe)	NPAT (S739F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300660	NM_002519.3(NPAT):c.4092G>A (p.Arg1364=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300659	NM_002519.3(NPAT):c.4083A>G (p.Ala1361=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300658	NM_002519.3(NPAT):c.535C>A (p.Gln179Lys)	NPAT (Q179K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300657	NM_002519.3(NPAT):c.1581T>C (p.Ser527=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300656	NM_002519.3(NPAT):c.145G>A (p.Ala49Thr)	NPAT (A49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300655	NM_002519.3(NPAT):c.3326C>A (p.Pro1109His)	NPAT (P1116H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300654	NM_002519.3(NPAT):c.664T>G (p.Leu222Val)	NPAT (L222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300653	NM_002519.3(NPAT):c.2693C>T (p.Thr898Ile)	NPAT (T898I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300652	NM_002519.3(NPAT):c.3576T>G (p.Asn1192Lys)	NPAT (N1199K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300651	NM_002519.3(NPAT):c.176T>G (p.Leu59Trp)	NPAT (L59W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300650	NM_002519.3(NPAT):c.1580C>G (p.Ser527Cys)	NPAT (S527C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300649	NM_002519.3(NPAT):c.2445A>G (p.Leu815=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300648	NM_002519.3(NPAT):c.1165T>C (p.Ser389Pro)	NPAT (S389P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300647	NM_002519.3(NPAT):c.2268T>C (p.Leu756=)	NPAT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3300646	NM_002519.3(NPAT):c.3947G>A (p.Cys1316Tyr)	NPAT (C1316Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300645	NM_002519.3(NPAT):c.835C>G (p.Gln279Glu)	NPAT (Q279E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300644	NM_002519.3(NPAT):c.370A>G (p.Arg124Gly)	NPAT (R124G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300643	NM_002519.3(NPAT):c.1586A>C (p.Lys529Thr)	NPAT (K529T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300642	NM_002519.3(NPAT):c.2612G>A (p.Cys871Tyr)	NPAT (C871Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300641	NM_002519.3(NPAT):c.2059C>G (p.Leu687Val)	NPAT (L687V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300640	NM_002519.3(NPAT):c.3200A>G (p.Asp1067Gly)	NPAT (D1074G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300638	NM_002519.3(NPAT):c.3796C>T (p.Pro1266Ser)	NPAT (P1266S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300636	NM_002519.3(NPAT):c.3956C>G (p.Ala1319Gly)	NPAT (A1326G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300635	NM_002519.3(NPAT):c.2648G>C (p.Ser883Thr)	NPAT (S883T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300634	NM_002519.3(NPAT):c.19G>A (p.Val7Ile)	NPAT (V7I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300633	NM_002519.3(NPAT):c.3658G>A (p.Val1220Ile)	NPAT (V1220I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300632	NM_002519.3(NPAT):c.446C>G (p.Thr149Ser)	NPAT (T149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300631	NM_002519.3(NPAT):c.2386G>A (p.Val796Ile)	NPAT (V796I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300629	NM_002519.3(NPAT):c.3812C>G (p.Pro1271Arg)	NPAT (P1278R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300628	NM_002519.3(NPAT):c.3092G>T (p.Ser1031Ile)	NPAT (S1038I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 10