ClinVar for Gene (Select 4677) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 208

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362301	NM_004539.4(NARS1):c.1228G>A (p.Gly410Arg)	NARS1 (G410R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	GLikely pathogenic
Select item 3360902	NM_004539.4(NARS1):c.964C>T (p.Arg322Trp)	NARS1 (R322W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360697	NM_004539.4(NARS1):c.626G>T (p.Gly209Val)	NARS1 (G209V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359897	NM_004539.4(NARS1):c.1526G>T (p.Gly509Val)	NARS1 (G509V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342322	NM_004539.4(NARS1):c.1058G>C (p.Arg353Pro)	NARS1 (R353P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341007	NM_004539.4(NARS1):c.1319T>C (p.Phe440Ser)	NARS1 (F440S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337384	NM_004539.4(NARS1):c.1058G>A (p.Arg353Gln)	NARS1 (R353Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336498	NM_004539.4(NARS1):c.1108G>A (p.Ala370Thr)	NARS1 (A370T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336241	NM_004539.4(NARS1):c.53G>A (p.Gly18Glu)	NARS1 (G18E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298446	NM_004539.4(NARS1):c.594T>G (p.His198Gln)	NARS1 (H198Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298445	NM_004539.4(NARS1):c.524C>T (p.Thr175Met)	NARS1 (T175M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252608	NM_004539.4(NARS1):c.1351C>T (p.Arg451Ter)	NARS1 (R451*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3251376	NM_004539.4(NARS1):c.343-1G>T	NARS1	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 3250626	NM_004539.4(NARS1):c.100A>T (p.Met34Leu)	NARS1 (M34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242204	NM_004539.4(NARS1):c.661A>C (p.Asn221His)	NARS1 (N221H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	GUncertain significance
Select item 3237544	NM_004539.4(NARS1):c.1555G>A (p.Gly519Ser)	NARS1 (G519S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 3175714	NM_004539.4(NARS1):c.957G>T (p.Gln319His)	NARS1 (Q319H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175709	NM_004539.4(NARS1):c.947G>A (p.Cys316Tyr)	NARS1 (C316Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175703	NM_004539.4(NARS1):c.941T>C (p.Val314Ala)	NARS1 (V314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175686	NM_004539.4(NARS1):c.863A>C (p.Asp288Ala)	NARS1 (D288A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175683	NM_004539.4(NARS1):c.751A>G (p.Met251Val)	NARS1 (M251V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3175679	NM_004539.4(NARS1):c.692A>G (p.Asn231Ser)	NARS1 (N231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175675	NM_004539.4(NARS1):c.662A>G (p.Asn221Ser)	NARS1 (N221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175674	NM_004539.4(NARS1):c.644G>C (p.Gly215Ala)	NARS1 (G215A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175671	NM_004539.4(NARS1):c.538G>A (p.Ala180Thr)	NARS1 (A180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175665	NM_004539.4(NARS1):c.455G>C (p.Gly152Ala)	NARS1 (G152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175663	NM_004539.4(NARS1):c.449G>C (p.Arg150Pro)	NARS1 (R150P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175661	NM_004539.4(NARS1):c.342+4A>G	NARS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3175654	NM_004539.4(NARS1):c.238C>T (p.Arg80Trp)	NARS1 (R80W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175648	NM_004539.4(NARS1):c.1616A>G (p.Tyr539Cys)	NARS1 (Y539C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175643	NM_004539.4(NARS1):c.1606G>A (p.Val536Met)	NARS1 (V536M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175641	NM_004539.4(NARS1):c.1574C>T (p.Thr525Met)	NARS1 (T525M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175638	NM_004539.4(NARS1):c.1435A>G (p.Ile479Val)	NARS1 (I479V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175633	NM_004539.4(NARS1):c.1324G>A (p.Val442Met)	NARS1 (V442M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175629	NM_004539.4(NARS1):c.1303A>G (p.Ile435Val)	NARS1 (I435V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175628	NM_004539.4(NARS1):c.1264G>C (p.Ala422Pro)	NARS1 (A422P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175626	NM_004539.4(NARS1):c.1213G>A (p.Val405Ile)	NARS1 (V405I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3175624	NM_004539.4(NARS1):c.1192G>A (p.Val398Ile)	NARS1 (V398I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3175616	NM_004539.4(NARS1):c.1169G>A (p.Arg390Gln)	NARS1 (R390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175611	NM_004539.4(NARS1):c.1154A>G (p.Lys385Arg)	NARS1 (K385R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175602	NM_004539.4(NARS1):c.1124A>G (p.His375Arg)	NARS1 (H375R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3175596	NM_004539.4(NARS1):c.1042G>T (p.Asp348Tyr)	NARS1 (D348Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175592	NM_004539.4(NARS1):c.101T>A (p.Met34Lys)	NARS1 (M34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068086	NM_004539.4(NARS1):c.521C>T (p.Ser174Phe)	NARS1 (S174F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 3064426	NM_004539.4(NARS1):c.245A>C (p.Lys82Thr)	NARS1 (K82T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 3043011	NM_004539.4(NARS1):c.251_252del (p.Glu84fs)	NARS1 (E84fs)	Microsatellite (frameshift variant)	NARS1-related disorder	GPathogenic
Select item 3027005	NM_004539.4(NARS1):c.1509G>A (p.Thr503=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025315	NM_004539.4(NARS1):c.1369C>T (p.Arg457Cys)	NARS1 (R457C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854925	NM_004539.4(NARS1):c.206T>C (p.Met69Thr)	NARS1 (M69T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835862	NM_004539.4(NARS1):c.1138A>G (p.Asn380Asp)	NARS1 (N380D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766578	NM_004539.4(NARS1):c.1568T>C (p.Phe523Ser)	NARS1 (F523S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761775	NM_004539.4(NARS1):c.91A>G (p.Lys31Glu)	NARS1 (K31E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672730	NM_004539.4(NARS1):c.1202A>C (p.Lys401Thr)	NARS1 (K401T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662109	NM_004539.4(NARS1):c.1175A>C (p.Asn392Thr)	NARS1 (N392T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648757	NM_004539.4(NARS1):c.51G>T (p.Thr17=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648756	NM_004539.4(NARS1):c.482C>A (p.Ala161Glu)	NARS1 (A161E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648755	NM_004539.4(NARS1):c.569del (p.Lys190fs)	NARS1 (K190fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2648754	NM_004539.4(NARS1):c.747A>C (p.Arg249=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648753	NM_004539.4(NARS1):c.789G>A (p.Arg263=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648752	NM_004539.4(NARS1):c.1038T>G (p.Thr346=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648751	NM_004539.4(NARS1):c.1044C>T (p.Asp348=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648750	NM_004539.4(NARS1):c.1151C>T (p.Pro384Leu)	NARS1 (P384L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2648749	NM_004539.4(NARS1):c.1152C>A (p.Pro384=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648748	NM_004539.4(NARS1):c.1491del (p.Tyr499fs)	NARS1 (Y499fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2648747	NM_004539.4(NARS1):c.1524C>T (p.Tyr508=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648746	NM_004539.4(NARS1):c.1575G>A (p.Thr525=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648745	NM_004539.4(NARS1):c.1640C>T (p.Thr547Met)	NARS1 (T547M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2635992	NM_004539.4(NARS1):c.412C>T (p.Arg138Cys)	NARS1 (R138C)	Single nucleotide variant (missense variant)	NARS1-related disorder	GUncertain significance
Select item 2634674	NM_004539.4(NARS1):c.311A>G (p.Lys104Arg)	NARS1 (K104R)	Single nucleotide variant (missense variant)	NARS1-related disorder	GUncertain significance
Select item 2633360	NM_004539.4(NARS1):c.535G>A (p.Val179Ile)	NARS1 (V179I)	Single nucleotide variant (missense variant)	NARS1-related disorder	GUncertain significance
Select item 2631445	NM_004539.4(NARS1):c.925C>T (p.Pro309Ser)	NARS1 (P309S)	Single nucleotide variant (missense variant)	NARS1-related disorder	GUncertain significance
Select item 2628986	NM_004539.4(NARS1):c.1561G>C (p.Glu521Gln)	NARS1 (E521Q)	Single nucleotide variant (missense variant)	NARS1-related disorder	GUncertain significance
Select item 2623720	NM_004539.4(NARS1):c.888G>T (p.Leu296Phe)	NARS1 (L296F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600300	NM_004539.4(NARS1):c.244A>G (p.Lys82Glu)	NARS1 (K82E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575616	NM_004539.4(NARS1):c.1495T>C (p.Tyr499His)	NARS1 (Y499H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574745	NM_004539.4(NARS1):c.94-2A>T	NARS1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2571018	NM_004539.4(NARS1):c.904T>C (p.Leu302=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557691	NM_004539.4(NARS1):c.1601G>A (p.Arg534Gln)	NARS1 (R534Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2538330	NM_004539.4(NARS1):c.242A>C (p.Glu81Ala)	NARS1 (E81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529276	NM_004539.4(NARS1):c.679G>C (p.Asp227His)	NARS1 (D227H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529151	NM_004539.4(NARS1):c.815C>T (p.Thr272Ile)	NARS1 (T272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524841	NM_004539.4(NARS1):c.1189A>G (p.Ile397Val)	NARS1 (I397V)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2507147	NM_004539.4(NARS1):c.49A>G (p.Thr17Ala)	NARS1 (T17A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506541	GRCh37/hg19 18q21.31-21.32(chr18:55020078-56892966)	GRP, MALT1 +10 more	Copy number loss	Cholestasis	GPathogenic
Select item 2505476	NM_004539.4(NARS1):c.1251+699A>G	NARS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	GUncertain significance
Select item 2502700	NM_004539.4(NARS1):c.528G>C (p.Glu176Asp)	NARS1 (E176D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502662	NM_004539.4(NARS1):c.1597A>G (p.Ile533Val)	NARS1 (I533V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501465	NM_004539.4(NARS1):c.1025G>A (p.Cys342Tyr)	NARS1 (C342Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498743	NM_004539.4(NARS1):c.616G>A (p.Glu206Lys)	NARS1 (E206K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 2498742	NM_004539.4(NARS1):c.813A>C (p.Pro271=)	NARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498741	NM_004539.4(NARS1):c.812_813delinsGC (p.Pro271Arg)	NARS1 (P271R)	Indel (missense variant)	not provided	GUncertain significance
Select item 2496124	NM_004539.4(NARS1):c.949A>G (p.Ile317Val)	NARS1 (I317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495455	NM_004539.4(NARS1):c.864C>G (p.Asp288Glu)	NARS1 (D288E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473696	NM_004539.4(NARS1):c.1417G>A (p.Val473Met)	NARS1 (V473M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431803	NM_004539.4(NARS1):c.889A>C (p.Thr297Pro)	NARS1 (T297P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	GUncertain significance
Select item 2425868	NC_000018.9:g.(?_55217944)_(58040587_?)del	ALPK2, ATP8B1 +14 more	Deletion	Isolated microphthalmia 3	GPathogenic
Select item 2425645	NC_000018.9:g.(?_55217944)_(58039582_?)dup	ALPK2, ATP8B1 +14 more	Duplication	not provided	GUncertain significance
Select item 2164577	NM_004539.4(NARS1):c.43G>A (p.Asp15Asn)	NARS1 (D15N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879401	NM_004539.4(NARS1):c.94-2A>G	NARS1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance

<< First< Prev

Page of 3