8565[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 297133	NM_003680.4(YARS1):c.*724T>C	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297134	NM_003680.4(YARS1):c.*681T>G	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297135	NM_003680.4(YARS1):c.*680A>G	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297136	NM_003680.4(YARS1):c.*599A>C	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297137	NM_003680.4(YARS1):c.*539A>G	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297138	NM_003680.4(YARS1):c.*442AAAGG[1]	YARS1	Microsatellite (3 prime UTR variant)	Charcot-Marie-Tooth, Intermediate	GLikely benign
Select item 297139	NM_003680.4(YARS1):c.*439T>C	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297140	NM_003680.4(YARS1):c.*399G>A	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297141	NM_003680.4(YARS1):c.*386G>T	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 297142	NM_003680.4(YARS1):c.*369G>A	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297143	NM_003680.4(YARS1):c.*305CA[1]	YARS1	Microsatellite (3 prime UTR variant)	Charcot-Marie-Tooth, Intermediate	GLikely benign
Select item 297144	NM_003680.4(YARS1):c.*293A>G	YARS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297145	NM_003680.4(YARS1):c.*284A>G	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GBenign/Likely benign
Select item 297146	NM_003680.4(YARS1):c.*138G>A	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 1200883	NM_003680.4(YARS1):c.*106C>T	YARS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 297147	NM_003680.4(YARS1):c.*21C>A	YARS1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate C	GBenign
Select item 1053468	NM_003680.4(YARS1):c.1584C>G (p.Ser528Arg)	YARS1 (S528R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2164814	NM_003680.4(YARS1):c.1579A>G (p.Ile527Val)	YARS1 (I527V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1681471	NM_003680.4(YARS1):c.1577A>T (p.Asn526Ile)	YARS1 (N526I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1141904	NM_003680.4(YARS1):c.1575G>A (p.Gly525=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 860911	NM_003680.4(YARS1):c.1574G>A (p.Gly525Glu)	YARS1 (G525E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 446532	NM_003680.4(YARS1):c.1573G>A (p.Gly525Arg)	YARS1 (G525R)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2	GPathogenic
Select item 2683776	NM_003680.4(YARS1):c.1571G>A (p.Gly524Glu)	YARS1 (G524E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681472	NM_003680.4(YARS1):c.1571G>T (p.Gly524Val)	YARS1 (G524V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 220175	NM_003680.4(YARS1):c.1571G>C (p.Gly524Ala)	YARS1 (G524A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 855711	NM_003680.4(YARS1):c.1570G>C (p.Gly524Arg)	YARS1 (G524R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2815390	NM_003680.4(YARS1):c.1568A>G (p.Lys523Arg)	YARS1 (K523R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2162373	NM_003680.4(YARS1):c.1563G>A (p.Ser521=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 533461	NM_003680.4(YARS1):c.1549A>G (p.Ile517Val)	YARS1 (I517V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 246479	NM_003680.4(YARS1):c.1543G>A (p.Gly515Ser)	YARS1 (G515S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 643209	NM_003680.4(YARS1):c.1531A>G (p.Met511Val)	YARS1 (M511V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 761342	NM_003680.4(YARS1):c.1527C>T (p.Asn509=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2884438	NM_003680.4(YARS1):c.1523C>T (p.Thr508Ile)	YARS1 (T508I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2847914	NM_003680.4(YARS1):c.1523C>A (p.Thr508Asn)	YARS1 (T508N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 533458	NM_003680.4(YARS1):c.1514G>A (p.Trp505Ter)	YARS1 (W505*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2751217	NM_003680.4(YARS1):c.1507G>C (p.Ala503Pro)	YARS1 (A503P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 573519	NM_003680.4(YARS1):c.1507G>T (p.Ala503Ser)	YARS1 (A503S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297148	NM_003680.4(YARS1):c.1507G>A (p.Ala503Thr)	YARS1 (A503T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1113801	NM_003680.4(YARS1):c.1506C>T (p.Ile502=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1681473	NM_003680.4(YARS1):c.1503C>T (p.Cys501=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1158750	NM_003680.4(YARS1):c.1494T>C (p.Ser498=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 852512	NM_003680.4(YARS1):c.1487A>C (p.Lys496Thr)	YARS1 (K496T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 464874	NM_003680.4(YARS1):c.1487A>G (p.Lys496Arg)	YARS1 (K496R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 697735	NM_003680.4(YARS1):c.1486A>G (p.Lys496Glu)	YARS1 (K496E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1681474	NM_003680.4(YARS1):c.1480G>A (p.Asp494Asn)	YARS1 (D494N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2166788	NM_003680.4(YARS1):c.1477-22CT[2]	YARS1	Microsatellite (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1289027	NM_003680.4(YARS1):c.1476+304G>C	YARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2184136	NM_003680.4(YARS1):c.1476+20C>T	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2845449	NM_003680.4(YARS1):c.1476+17G>T	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 533465	NM_003680.4(YARS1):c.1476+2T>C	YARS1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1903502	NM_003680.4(YARS1):c.1471T>C (p.Leu491=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 194050	NM_003680.4(YARS1):c.1464C>T (p.Phe488=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C +2 more	GConflicting classifications of pathogenicity
Select item 2723543	NM_003680.4(YARS1):c.1451A>G (p.Lys484Arg)	YARS1 (K484R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1681475	NM_003680.4(YARS1):c.1448C>T (p.Pro483Leu)	YARS1 (P483L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1979474	NM_003680.4(YARS1):c.1443C>G (p.Leu481=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2076158	NM_003680.4(YARS1):c.1435GAG[1] (p.Glu480del)	YARS1 (E480del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2129481	NM_003680.4(YARS1):c.1439A>G (p.Glu480Gly)	YARS1 (E480G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 854032	NM_003680.4(YARS1):c.1435G>A (p.Glu479Lys)	YARS1 (E479K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2955065	NM_003680.4(YARS1):c.1433A>T (p.Asp478Val)	YARS1 (D478V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1799763	NM_003680.4(YARS1):c.1421A>G (p.Lys474Arg)	YARS1 (K474R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 843281	NM_003680.4(YARS1):c.1418A>G (p.Glu473Gly)	YARS1 (E473G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 1681476	NM_003680.4(YARS1):c.1415A>G (p.Tyr472Cys)	YARS1 (Y472C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1681477	NM_003680.4(YARS1):c.1407G>A (p.Val469=)	YARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 704510	NM_003680.4(YARS1):c.1407G>T (p.Val469=)	YARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 644353	NM_003680.4(YARS1):c.1405del (p.Phe468_Val469insTer)	YARS1	Deletion (nonsense)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1980077	NM_003680.4(YARS1):c.1400T>G (p.Val467Gly)	YARS1 (V467G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2095958	NM_003680.4(YARS1):c.1396C>G (p.His466Asp)	YARS1 (H466D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1057802	NM_003680.4(YARS1):c.1387C>G (p.Pro463Ala)	YARS1 (P463A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2036129	NM_003680.4(YARS1):c.1385C>G (p.Ala462Gly)	YARS1 (A462G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 297149	NM_003680.4(YARS1):c.1374G>A (p.Pro458=)	YARS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 982672	NM_003680.4(YARS1):c.1373C>T (p.Pro458Leu)	YARS1 (P458L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 806106	NM_003680.4(YARS1):c.1361C>T (p.Pro454Leu)	YARS1 (P454L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +1 more	GUncertain significance
Select item 2101367	NM_003680.4(YARS1):c.1353G>C (p.Gln451His)	YARS1 (Q451H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2156297	NM_003680.4(YARS1):c.1349G>T (p.Arg450Leu)	YARS1 (R450L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 944972	NM_003680.4(YARS1):c.1349G>A (p.Arg450His)	YARS1 (R450H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 648368	NM_003680.4(YARS1):c.1349G>C (p.Arg450Pro)	YARS1 (R450P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 533464	NM_003680.4(YARS1):c.1348C>T (p.Arg450Cys)	YARS1 (R450C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2033132	NM_003680.4(YARS1):c.1337A>T (p.Glu446Val)	YARS1 (E446V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1130185	NM_003680.4(YARS1):c.1335-4C>G	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 758447	NM_003680.4(YARS1):c.1335-8C>G	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2907175	NM_003680.4(YARS1):c.1335-17G>C	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1681478	NM_003680.4(YARS1):c.1334+18G>A	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 1681479	NM_003680.4(YARS1):c.1334+17A>C	YARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate C	GLikely benign
Select item 2256041	NM_003680.4(YARS1):c.1333A>T (p.Ile445Leu)	YARS1 (I445L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1681480	NM_003680.4(YARS1):c.1333A>G (p.Ile445Val)	YARS1 (I445V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1800082	NM_003680.4(YARS1):c.1330_1332del (p.Ser444del)	YARS1 (S444del)	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1681481	NM_003680.4(YARS1):c.1330T>G (p.Ser444Ala)	YARS1 (S444A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2106597	NM_003680.4(YARS1):c.1328C>A (p.Ala443Asp)	YARS1 (A443D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 2725779	NM_003680.4(YARS1):c.1324T>G (p.Cys442Gly)	YARS1 (C442G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1800159	NM_003680.4(YARS1):c.1318C>T (p.Leu440Phe)	YARS1 (L440F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301359	NM_003680.4(YARS1):c.1312G>T (p.Gly438Cys)	YARS1 (G438C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1681482	NM_003680.4(YARS1):c.1303G>A (p.Glu435Lys)	YARS1 (E435K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 1681483	NM_003680.4(YARS1):c.1298G>T (p.Gly433Val)	YARS1 (G433V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 464873	NM_003680.4(YARS1):c.1291A>T (p.Met431Leu)	YARS1 (M431L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +3 more	GConflicting classifications of pathogenicity
Select item 2982074	NM_003680.4(YARS1):c.1285C>T (p.Gln429Ter)	YARS1 (Q429*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 970902	NM_003680.4(YARS1):c.1281dup (p.Pro428fs)	YARS1 (P428fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance

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