3401[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 120

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 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	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 152802	GRCh38/hg38 1q42.12(chr1:225730526-225894702)x1	LOC129932616, LOC129932617 +16 more	Copy number loss	See cases	GUncertain significance
Select item 151437	GRCh38/hg38 1q42.12(chr1:225751478-225894702)x3	EPHX1, LEFTY1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1236956	NM_001136018.4(EPHX1):c.-5-45G>A	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269020	NM_001136018.4(EPHX1):c.-5-29G>A	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2219471	NM_001136018.4(EPHX1):c.34G>A (p.Gly12Ser)	EPHX1 (G12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089708	NM_001136018.4(EPHX1):c.61C>T (p.Arg21Trp)	EPHX1 (R21W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622638	NM_001136018.4(EPHX1):c.137A>G (p.Asp46Gly)	EPHX1 (D46G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786997	NM_001136018.4(EPHX1):c.145C>T (p.Arg49Cys)	EPHX1 (R49C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1266914	NM_001136018.4(EPHX1):c.183+20G>A	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272638	NM_001136018.4(EPHX1):c.184-220dup	EPHX1	Duplication (intron variant)	not provided	GBenign
Select item 1236761	NM_001136018.4(EPHX1):c.184-220del	EPHX1	Deletion (intron variant)	not provided	GBenign
Select item 1232422	NM_001136018.4(EPHX1):c.184-225_184-220del	EPHX1	Deletion (intron variant)	not provided	GBenign
Select item 1269503	NM_001136018.4(EPHX1):c.184-219_184-214del	EPHX1	Deletion (intron variant)	not provided	GBenign
Select item 1228965	NM_001136018.4(EPHX1):c.184-219_184-215del	EPHX1	Deletion (intron variant)	not provided	GBenign
Select item 1289817	NM_001136018.4(EPHX1):c.184-216_184-213del	EPHX1	Deletion (intron variant)	not provided	GBenign
Select item 1234932	NM_001136018.4(EPHX1):c.184-214_184-213del	EPHX1	Deletion (intron variant)	not provided	GBenign
Select item 1259870	NM_001136018.4(EPHX1):c.184-109G>T	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3037613	NM_001136018.4(EPHX1):c.204T>C (p.Asp68=)	EPHX1	Single nucleotide variant (synonymous variant +1 more)	EPHX1-related disorder	GBenign
Select item 709591	NM_001136018.4(EPHX1):c.212G>A (p.Arg71His)	EPHX1 (R71H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2305891	NM_001136018.4(EPHX1):c.232G>A (p.Asp78Asn)	EPHX1 (D69N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276007	NM_001136018.4(EPHX1):c.246C>G (p.His82Gln)	EPHX1 (H82Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721070	NM_001136018.4(EPHX1):c.303T>C (p.Phe101=)	EPHX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 16604	NM_001136018.4(EPHX1):c.337T>C (p.Tyr113His)	EPHX1 (Y113H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1286409	NM_001136018.4(EPHX1):c.357G>A (p.Lys119=)	EPHX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1234219	NM_001136018.4(EPHX1):c.364+114G>C	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268895	NM_001136018.4(EPHX1):c.365-114C>G	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780301	NM_001136018.4(EPHX1):c.365-3C>A	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2227541	NM_001136018.4(EPHX1):c.370G>A (p.Asp124Asn)	EPHX1 (D124N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2681259	NM_001136018.4(EPHX1):c.387C>T (p.His129=)	EPHX1	Single nucleotide variant (synonymous variant +2 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 806367	NM_001136018.4(EPHX1):c.387C>A (p.His129Gln)	EPHX1 (H129Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2264544	NM_001136018.4(EPHX1):c.398C>G (p.Pro133Arg)	EPHX1 (P133R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 16605	NM_001136018.4(EPHX1):c.416A>G (p.His139Arg)	EPHX1 (H139R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1282637	NM_001136018.4(EPHX1):c.592+34G>A	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 751922	NM_001136018.4(EPHX1):c.612C>T (p.Thr204=)	EPHX1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3089709	NM_001136018.4(EPHX1):c.640C>T (p.Arg214Trp)	EPHX1 (R205W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1298012	NM_001136018.4(EPHX1):c.722+21GT[21]	EPHX1	Microsatellite (intron variant)	not provided	GBenign
Select item 1282961	NM_001136018.4(EPHX1):c.722+21GT[20]	EPHX1	Microsatellite (intron variant)	not provided	GBenign
Select item 1276783	NM_001136018.4(EPHX1):c.722+21GT[19]	EPHX1	Microsatellite (intron variant)	not provided	GBenign
Select item 1251587	NM_001136018.4(EPHX1):c.722+21GT[22]	EPHX1	Microsatellite (intron variant)	not provided	GBenign
Select item 1281245	NM_001136018.4(EPHX1):c.722+149C>T	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180067	NM_001136018.4(EPHX1):c.722+154A>G	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291307	NM_001136018.4(EPHX1):c.723-207T>C	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2599585	NM_001136018.4(EPHX1):c.727G>A (p.Val243Met)	EPHX1 (V234M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260852	NM_001136018.4(EPHX1):c.739C>T (p.His247Tyr)	EPHX1 (H171Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1251795	NM_001136018.4(EPHX1):c.741C>T (p.His247=)	EPHX1	Single nucleotide variant (synonymous variant +2 more)	EPHX1-related disorder +1 more	GBenign
Select item 780302	NM_001136018.4(EPHX1):c.762A>G (p.Leu254=)	EPHX1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3046204	NM_001136018.4(EPHX1):c.768C>A (p.Asn256Lys)	EPHX1 (N180K +2 more)	Single nucleotide variant (missense variant +2 more)	EPHX1-related disorder	GLikely benign
Select item 3276011	NM_001136018.4(EPHX1):c.772T>C (p.Ser258Pro)	EPHX1 (S249P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3276008	NM_001136018.4(EPHX1):c.772T>G (p.Ser258Ala)	EPHX1 (S258A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3058773	NM_001136018.4(EPHX1):c.778C>T (p.Leu260=)	EPHX1	Single nucleotide variant (synonymous variant +2 more)	EPHX1-related disorder	GLikely benign
Select item 561152	NM_001136018.4(EPHX1):c.823A>G (p.Thr275Ala)	EPHX1 (T275A +2 more)	Single nucleotide variant (missense variant +2 more)	Hypercholanemia, familial 1	GUncertain significance
Select item 1295081	NM_001136018.4(EPHX1):c.852C>T (p.Pro284=)	EPHX1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3089710	NM_001136018.4(EPHX1):c.853G>A (p.Val285Ile)	EPHX1 (V209I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478821	NM_001136018.4(EPHX1):c.898A>G (p.Met300Val)	EPHX1 (M291V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3089712	NM_001136018.4(EPHX1):c.919C>T (p.Pro307Ser)	EPHX1 (P231S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1288596	NM_001136018.4(EPHX1):c.931+126G>A	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3089713	NM_001136018.4(EPHX1):c.944A>G (p.Asn315Ser)	EPHX1, TMEM63A (N306S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467619	NM_001136018.4(EPHX1):c.982A>G (p.Lys328Glu)	EPHX1, TMEM63A (K319E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1679867	NM_001136018.4(EPHX1):c.1004C>T (p.Thr335Met)	EPHX1, TMEM63A (T146M +4 more)	Single nucleotide variant (missense variant +1 more)	Neutropenia +1 more	GBenign
Select item 1295073	NM_001136018.4(EPHX1):c.1041-181G>A	EPHX1, TMEM63A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179465	NM_001136018.4(EPHX1):c.1071C>T (p.Asn357=)	EPHX1, TMEM63A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3089705	NM_001136018.4(EPHX1):c.1072G>A (p.Val358Ile)	EPHX1, TMEM63A (V169I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2275421	NM_001136018.4(EPHX1):c.1091C>T (p.Thr364Ile)	EPHX1, TMEM63A (T288I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276010	NM_001136018.4(EPHX1):c.1094G>A (p.Gly365Asp)	EPHX1, TMEM63A (G289D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407262	NM_001136018.4(EPHX1):c.1115G>A (p.Arg372His)	EPHX1, TMEM63A (R356H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089706	NM_001136018.4(EPHX1):c.1147A>C (p.Met383Leu)	EPHX1, TMEM63A (M307L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267850	NM_001136018.4(EPHX1):c.1165C>T (p.Arg389Trp)	EPHX1, TMEM63A (R200W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1266897	NM_001136018.4(EPHX1):c.1166+205G>T	EPHX1, TMEM63A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264579	NM_001136018.4(EPHX1):c.1166+206C>A	EPHX1, TMEM63A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174166	NM_001136018.4(EPHX1):c.1167-170A>G	EPHX1, TMEM63A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3276012	NM_001136018.4(EPHX1):c.1204C>G (p.Pro402Ala)	EPHX1, TMEM63A (P213A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780303	NM_001136018.4(EPHX1):c.1216T>C (p.Leu406=)	TMEM63A, EPHX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 746952	NM_001136018.4(EPHX1):c.1223C>T (p.Thr408Met)	EPHX1, TMEM63A (T408M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3276006	NM_001136018.4(EPHX1):c.1234T>C (p.Trp412Arg)	EPHX1, TMEM63A (W223R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771319	NM_001136018.4(EPHX1):c.1239G>A (p.Val413=)	EPHX1, TMEM63A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1223052	NM_001136018.4(EPHX1):c.1248G>A (p.Lys416=)	EPHX1, TMEM63A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780304	NM_001136018.4(EPHX1):c.1299G>A (p.Ala433=)	EPHX1, TMEM63A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2558064	NM_001136018.4(EPHX1):c.1305T>G (p.Phe435Leu)	EPHX1, TMEM63A (F246L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721093	NM_001136018.4(EPHX1):c.1314G>A (p.Pro438=)	EPHX1, TMEM63A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2375644	NM_001136018.4(EPHX1):c.1324G>A (p.Ala442Thr)	EPHX1, TMEM63A (A253T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089707	NM_001136018.4(EPHX1):c.1328A>T (p.Gln443Leu)	EPHX1, TMEM63A (Q254L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1275216	NM_001136018.4(EPHX1):c.1350G>C (p.Ser450=)	EPHX1, TMEM63A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1248948	NM_001136018.4(EPHX1):c.*35A>C	EPHX1, TMEM63A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3247986	NC_000001.10:g.(?_225591005)_(227174438_?)del	ACBD3, COQ8A +16 more	Deletion	not provided	GPathogenic
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided

<< First< Prev

Page of 2