ClinVar for Gene (Select 55740) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3088816	NM_018212.6(ENAH):c.926G>T (p.Gly309Val)	ENAH (G556V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088815	NM_018212.6(ENAH):c.884C>T (p.Ser295Phe)	ENAH (S295F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088814	NM_018212.6(ENAH):c.833A>G (p.Asn278Ser)	ENAH (N297S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088813	NM_018212.6(ENAH):c.677G>T (p.Arg226Met)	ENAH (R245M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088812	NM_018212.6(ENAH):c.472C>T (p.Arg158Trp)	ENAH (R19W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088811	NM_018212.6(ENAH):c.436C>A (p.Gln146Lys)	ENAH (Q7K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620697	NM_018212.6(ENAH):c.1525C>T (p.Pro509Ser)	ENAH (P472S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608564	NM_018212.6(ENAH):c.1036G>T (p.Gly346Trp)	ENAH (G593W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550809	NM_018212.6(ENAH):c.1391C>T (p.Thr464Ile)	ENAH (T464I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516556	NM_018212.6(ENAH):c.653G>A (p.Arg218Gln)	ENAH (R237Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493204	NM_018212.6(ENAH):c.824C>T (p.Thr275Ile)	ENAH (T294I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473383	NM_018212.6(ENAH):c.598C>T (p.Arg200Trp)	ENAH (R200W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405271	NM_018212.6(ENAH):c.1046C>T (p.Pro349Leu)	ENAH (P349L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403706	NM_018212.6(ENAH):c.1178C>T (p.Ala393Val)	ENAH (A412V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398597	NM_018212.6(ENAH):c.1153G>C (p.Asp385His)	ENAH (D385H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395021	NM_018212.6(ENAH):c.1319G>C (p.Gly440Ala)	ENAH (G403A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386112	NM_018212.6(ENAH):c.928C>T (p.Pro310Ser)	ENAH (P273S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378688	NM_018212.6(ENAH):c.293A>G (p.Asn98Ser)	ENAH (N98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372174	NM_018212.6(ENAH):c.675G>T (p.Glu225Asp)	ENAH (E225D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251254	NM_018212.6(ENAH):c.1265A>C (p.Asn422Thr)	ENAH (N441T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
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 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809014	GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1	AIDA, BROX +21 more	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1410588	NC_000001.10:g.(?_225591005)_(227174438_?)dup	ACBD3, COQ8A +16 more	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 790252	NM_018212.6(ENAH):c.435-4C>T	ENAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 780300	NM_018212.6(ENAH):c.1675+10del	ENAH	Deletion (intron variant)	not provided	GBenign
Select item 767753	NM_018212.6(ENAH):c.615GCGGCAGGAACGCCTGGA[2] (p.199ERQERL[3])	ENAH	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 747225	NM_018212.6(ENAH):c.942A>C (p.Pro314=)	ENAH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742118	NM_018212.6(ENAH):c.435-5T>C	ENAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 725097	NM_018212.6(ENAH):c.794C>T (p.Ser265Leu)	ENAH (S265L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 218481	NM_018212.6(ENAH):c.435-5del	ENAH	Deletion (intron variant)	not specified	GBenign
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	LOC129932697, LOC129932698 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	ABCB10, ACBD3 +869 more	Copy number gain	See cases	GPathogenic
Select item 154238	GRCh38/hg38 1q42.12(chr1:224722478-225761035)x1	CNIH3, CNIH3-AS1 +31 more	Copy number loss	See cases	GUncertain significance
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 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 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 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 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 62