ANGEL2[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 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 +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 1338832	GRCh38/hg38 1q32.3(chr1:212337801-213362035)	ANGEL2, ATF3 +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 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 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 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 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +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	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +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	CAPN9, CATSPERE +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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +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

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Items: 52