17168[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 762

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 295601	NM_012414.3(RAB3GAP2):c.2970_2973dup	RAB3GAP2	Duplication	Martsolf syndrome +1 more	GUncertain significance
Select item 295602	NM_012414.4(RAB3GAP2):c.*2920CTT[1]	RAB3GAP2	Microsatellite (3 prime UTR variant)	Warburg micro syndrome +1 more	GBenign
Select item 874931	NM_012414.4(RAB3GAP2):c.*2901G>T	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 295603	NM_012414.4(RAB3GAP2):c.*2769G>T	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 874932	NM_012414.4(RAB3GAP2):c.*2695T>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 295604	NM_012414.4(RAB3GAP2):c.*2643T>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 875864	NM_012414.4(RAB3GAP2):c.*2638C>T	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Martsolf syndrome +1 more	GLikely benign
Select item 295605	NM_012414.4(RAB3GAP2):c.2551_2552del	RAB3GAP2	Deletion (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295606	NM_012414.4(RAB3GAP2):c.*2550G>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 295607	NM_012414.4(RAB3GAP2):c.*2518A>G	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 295608	NM_012414.4(RAB3GAP2):c.*2512dup	RAB3GAP2	Duplication (3 prime UTR variant)	Warburg micro syndrome +1 more	GLikely benign
Select item 295609	NM_012414.4(RAB3GAP2):c.*2512del	RAB3GAP2	Deletion (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295610	NM_012414.4(RAB3GAP2):c.*2464T>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 295611	NM_012414.4(RAB3GAP2):c.*2450G>T	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 876861	NM_012414.4(RAB3GAP2):c.*2399A>G	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 295612	NM_012414.4(RAB3GAP2):c.2392_2395dup	RAB3GAP2	Duplication (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 876862	NM_012414.4(RAB3GAP2):c.*2386A>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 295613	NM_012414.4(RAB3GAP2):c.*2347T>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 295614	NM_012414.4(RAB3GAP2):c.2338_2339del	RAB3GAP2	Deletion (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 874063	NM_012414.4(RAB3GAP2):c.*2336T>G	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 295615	NM_012414.4(RAB3GAP2):c.*2327A>G	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 295616	NM_012414.4(RAB3GAP2):c.*2210G>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 874064	NM_012414.4(RAB3GAP2):c.*2176G>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 874065	NM_012414.4(RAB3GAP2):c.*2171A>G	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +2 more	GUncertain significance
Select item 295617	NM_012414.4(RAB3GAP2):c.*2102C>A	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 295618	NM_012414.4(RAB3GAP2):c.*2090AAAT[2]	RAB3GAP2	Microsatellite (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295619	NM_012414.4(RAB3GAP2):c.*2043G>A	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GBenign
Select item 874990	NM_012414.4(RAB3GAP2):c.*1821C>T	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 874991	NM_012414.4(RAB3GAP2):c.*1791T>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 295620	NM_012414.4(RAB3GAP2):c.1694_1695insACA	RAB3GAP2	Insertion (3 prime UTR variant)	Warburg micro syndrome +1 more	GLikely benign
Select item 875915	NM_012414.4(RAB3GAP2):c.*1560A>G	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 875916	NM_012414.4(RAB3GAP2):c.*1559C>T	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 875917	NM_012414.4(RAB3GAP2):c.*1538T>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 875918	NM_012414.4(RAB3GAP2):c.*1527G>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Martsolf syndrome +1 more	GLikely benign
Select item 295621	NM_012414.4(RAB3GAP2):c.*1504G>T	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 295622	NM_012414.4(RAB3GAP2):c.*1470G>A	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 295623	NM_012414.4(RAB3GAP2):c.*1453T>G	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 876911	NM_012414.4(RAB3GAP2):c.*1404T>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 874117	NM_012414.4(RAB3GAP2):c.*1340T>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 295624	NM_012414.4(RAB3GAP2):c.*1335C>T	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 295625	NM_012414.4(RAB3GAP2):c.*1271C>T	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 295626	NM_012414.4(RAB3GAP2):c.*1145del	RAB3GAP2	Deletion (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295627	NM_012414.4(RAB3GAP2):c.*1144del	RAB3GAP2	Deletion (3 prime UTR variant)	Warburg micro syndrome +2 more	GUncertain significance
Select item 295628	NM_012414.4(RAB3GAP2):c.*1143A>G	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 295629	NM_012414.4(RAB3GAP2):c.*1130A>G	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GBenign
Select item 875049	NM_012414.4(RAB3GAP2):c.*1087A>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 295630	NM_012414.4(RAB3GAP2):c.*925C>T	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GBenign
Select item 295632	NM_012414.4(RAB3GAP2):c.798_799dup	RAB3GAP2	Duplication (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295631	NM_012414.4(RAB3GAP2):c.*799dup	RAB3GAP2	Duplication (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 875050	NM_012414.4(RAB3GAP2):c.*777T>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 295633	NM_012414.4(RAB3GAP2):c.*645C>T	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 875977	NM_012414.4(RAB3GAP2):c.*572G>T	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Martsolf syndrome +1 more	GLikely benign
Select item 295634	NM_012414.4(RAB3GAP2):c.*537G>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 875978	NM_012414.4(RAB3GAP2):c.*509G>A	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 876952	NM_012414.4(RAB3GAP2):c.*436A>G	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 876953	NM_012414.4(RAB3GAP2):c.*417A>G	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 295635	NM_012414.4(RAB3GAP2):c.*404T>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 876954	NM_012414.4(RAB3GAP2):c.*391C>T	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 295636	NM_012414.4(RAB3GAP2):c.*374T>G	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome +1 more	GUncertain significance
Select item 295637	NM_012414.4(RAB3GAP2):c.*108T>A	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 874166	NM_012414.4(RAB3GAP2):c.*104T>C	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 874167	NM_012414.4(RAB3GAP2):c.*78G>A	RAB3GAP2	Single nucleotide variant (3 prime UTR variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 1966419	NM_012414.4(RAB3GAP2):c.4180T>A (p.Ter1394Arg)	RAB3GAP2	Single nucleotide variant (stop lost)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2081851	NM_012414.4(RAB3GAP2):c.4179A>G (p.Leu1393=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2946965	NM_012414.4(RAB3GAP2):c.4164A>C (p.Ile1388=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 531896	NM_012414.4(RAB3GAP2):c.4161C>T (p.Ala1387=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 2374872	NM_012414.4(RAB3GAP2):c.4150G>A (p.Ala1384Thr)	RAB3GAP2 (A1384T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1673927	NM_012414.4(RAB3GAP2):c.4119G>A (p.Gly1373=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2924066	NM_012414.4(RAB3GAP2):c.4113A>G (p.Lys1371=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 211989	NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)	RAB3GAP2 (I1354V)	Single nucleotide variant (missense variant)	Martsolf syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2196024	NM_012414.4(RAB3GAP2):c.4059A>C (p.Pro1353=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 1495931	NM_012414.4(RAB3GAP2):c.4051G>C (p.Glu1351Gln)	RAB3GAP2 (E1351Q)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +1 more	GUncertain significance
Select item 2922907	NM_012414.4(RAB3GAP2):c.4038C>T (p.Asp1346=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2187917	NM_012414.4(RAB3GAP2):c.4029C>A (p.Asp1343Glu)	RAB3GAP2 (D1343E)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 1215487	NM_012414.4(RAB3GAP2):c.4027-5T>C	RAB3GAP2	Single nucleotide variant (intron variant)	Warburg micro syndrome 2 +2 more	GLikely benign
Select item 2923941	NM_012414.4(RAB3GAP2):c.4027-15G>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 1292637	NM_012414.4(RAB3GAP2):c.4026+59G>C	RAB3GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1945595	NM_012414.4(RAB3GAP2):c.4026+19G>C	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 1583204	NM_012414.4(RAB3GAP2):c.4026+13G>A	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2923104	NM_012414.4(RAB3GAP2):c.4026+12A>G	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 775012	NM_012414.4(RAB3GAP2):c.4026+10A>G	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 2924601	NM_012414.4(RAB3GAP2):c.4026+7A>G	RAB3GAP2	Single nucleotide variant (intron variant)	Martsolf syndrome +1 more	GLikely benign
Select item 436468	NM_012414.4(RAB3GAP2):c.4025T>C (p.Met1342Thr)	RAB3GAP2 (M1342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 518168	NM_012414.4(RAB3GAP2):c.3999C>T (p.Pro1333=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +2 more	GBenign/Likely benign
Select item 706051	NM_012414.4(RAB3GAP2):c.3996A>G (p.Pro1332=)	RAB3GAP2	Single nucleotide variant (synonymous variant)	Warburg micro syndrome 2 +1 more	GLikely benign
Select item 1928960	NM_012414.4(RAB3GAP2):c.3995del (p.Pro1332fs)	RAB3GAP2 (P1332fs)	Deletion (frameshift variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 287195	NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile)	RAB3GAP2 (L1331I)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +2 more	GBenign/Likely benign
Select item 295638	NM_012414.4(RAB3GAP2):c.3978G>T (p.Glu1326Asp)	RAB3GAP2 (E1326D)	Single nucleotide variant (missense variant)	Martsolf syndrome +1 more	GUncertain significance
Select item 436477	NM_012414.4(RAB3GAP2):c.3965AAG[1] (p.Glu1323del)	RAB3GAP2 (E1323del)	Microsatellite (inframe_deletion)	not specified	GUncertain significance

<< First< Prev

Page of 8