ANGEL2[gene] - ClinVar

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

Search results

Items: 56

	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 1338832	GRCh38/hg38 1q32.3(chr1:212337801-213362035)	LOC122149494, LOC122149495 +66 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 560151	NC_000001.11:g.212950566_213249878del	ANGEL2, LOC112577542 +12 more	Deletion	not provided	GUncertain significance
Select item 3118221	NM_144567.5(ANGEL2):c.1565A>G (p.Asn522Ser)	ANGEL2 (N353S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118218	NM_144567.5(ANGEL2):c.1561G>A (p.Val521Ile)	ANGEL2 (V395I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294021	NM_144567.5(ANGEL2):c.1555T>C (p.Trp519Arg)	ANGEL2 (W393R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118216	NM_144567.5(ANGEL2):c.1501G>A (p.Val501Ile)	ANGEL2 (V501I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272581	NM_144567.5(ANGEL2):c.1492G>C (p.Val498Leu)	ANGEL2 (V498L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361709	NM_144567.5(ANGEL2):c.1418G>A (p.Arg473Gln)	ANGEL2 (R304Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487631	NM_144567.5(ANGEL2):c.1379C>T (p.Pro460Leu)	ANGEL2 (P334L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118202	NM_144567.5(ANGEL2):c.1136T>A (p.Val379Glu)	ANGEL2 (V253E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522843	NM_144567.5(ANGEL2):c.1126A>G (p.Ile376Val)	ANGEL2 (I207V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524290	NM_144567.5(ANGEL2):c.1010A>T (p.His337Leu)	ANGEL2 (H168L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247161	NM_144567.5(ANGEL2):c.979A>G (p.Met327Val)	ANGEL2 (M327V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515517	NM_144567.5(ANGEL2):c.926C>T (p.Thr309Met)	ANGEL2 (T183M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118262	NM_144567.5(ANGEL2):c.904C>T (p.Pro302Ser)	ANGEL2 (P302S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481644	NM_144567.5(ANGEL2):c.824G>T (p.Arg275Leu)	ANGEL2 (R149L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377331	NM_144567.5(ANGEL2):c.823C>T (p.Arg275Cys)	ANGEL2 (R275C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396030	NM_144567.5(ANGEL2):c.763G>A (p.Ala255Thr)	ANGEL2 (A86T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223726	NM_144567.5(ANGEL2):c.745A>G (p.Arg249Gly)	ANGEL2 (R80G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118247	NM_144567.5(ANGEL2):c.575G>A (p.Arg192Gln)	ANGEL2 (R192Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206415	NM_144567.5(ANGEL2):c.572G>A (p.Arg191Gln)	ANGEL2 (R65Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273119	NM_144567.5(ANGEL2):c.553C>T (p.His185Tyr)	ANGEL2 (H185Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355442	NM_144567.5(ANGEL2):c.466C>G (p.Pro156Ala)	ANGEL2 (P156A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294960	NM_144567.5(ANGEL2):c.422A>G (p.His141Arg)	ANGEL2 (H15R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2329049	NM_144567.5(ANGEL2):c.388G>A (p.Val130Met)	ANGEL2 (V130M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602466	NM_144567.5(ANGEL2):c.358C>T (p.Pro120Ser)	ANGEL2 (P120S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294012	NM_144567.5(ANGEL2):c.197A>G (p.Tyr66Cys)	ANGEL2 (Y66C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615825	NM_144567.5(ANGEL2):c.175G>A (p.Gly59Arg)	ANGEL2 (G59R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561138	NM_144567.5(ANGEL2):c.149A>G (p.His50Arg)	ANGEL2 (H50R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314099	NM_144567.5(ANGEL2):c.89G>A (p.Ser30Asn)	ANGEL2 (S30N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294033	NM_144567.5(ANGEL2):c.52A>G (p.Arg18Gly)	ANGEL2 (R18G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2376472	NM_144567.5(ANGEL2):c.8C>G (p.Ala3Gly)	ANGEL2 (A3G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1340358	GRCh37/hg19 1q32.3(chr1:212846338-213356017)x3	ANGEL2, BATF3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +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 831718	NC_000001.11:g.(?_212858453)_(212997318_?)dup	ANGEL2, FLVCR1 +1 more	Duplication	not provided	GUncertain significance
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565221	GRCh37/hg19 1q32.3(chr1:213054159-213549122)x3	FLVCR1, ANGEL2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253993	GRCh37/hg19 1q32.3(chr1:213088559-213423221)x1	ANGEL2, RPS6KC1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 253934	GRCh37/hg19 1q32.3(chr1:213123908-213423221)x1	VASH2, RPS6KC1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 253783	GRCh37/hg19 1q32.3(chr1:212859808-213336495)x3	FLVCR1, FLVCR1-DT +7 more	Copy number gain	See cases	GUncertain significance
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 226161	GRCh37/hg19 1q32.3(chr1:213092201-213176992)	VASH2, ANGEL2	Copy number loss	Abnormal esophagus morphology	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 56