ANGEL1[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 146816	GRCh38/hg38 14q24.3(chr14:76319351-76844718)x3	ANGEL1, ESRRB +16 more	Copy number gain	See cases	GLikely benign
Select item 148346	GRCh38/hg38 14q24.3(chr14:76724499-76945497)x1	ANGEL1, LOC110121372 +12 more	Copy number loss	See cases	GUncertain significance
Select item 3118149	NM_015305.4(ANGEL1):c.1990G>A (p.Gly664Arg)	ANGEL1 (G717R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375475	NM_015305.4(ANGEL1):c.1966C>A (p.His656Asn)	ANGEL1 (H656N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315283	NM_015305.4(ANGEL1):c.1949C>G (p.Pro650Arg)	ANGEL1 (P703R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537581	NM_015305.4(ANGEL1):c.1816T>C (p.Phe606Leu)	ANGEL1 (F659L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284247	NM_015305.4(ANGEL1):c.1759C>T (p.Arg587Cys)	ANGEL1 (R640C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118133	NM_015305.4(ANGEL1):c.1754G>A (p.Arg585His)	ANGEL1 (R585H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2617250	NM_015305.4(ANGEL1):c.1752G>C (p.Gln584His)	ANGEL1 (Q637H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118127	NM_015305.4(ANGEL1):c.1667A>T (p.Glu556Val)	ANGEL1 (E556V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605584	NM_015305.4(ANGEL1):c.1664C>T (p.Ser555Leu)	ANGEL1 (S608L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118120	NM_015305.4(ANGEL1):c.1628C>T (p.Ala543Val)	ANGEL1 (A596V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623572	NM_015305.4(ANGEL1):c.1576G>A (p.Val526Ile)	ANGEL1 (V526I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118112	NM_015305.4(ANGEL1):c.1487C>T (p.Ser496Phe)	ANGEL1 (S496F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478762	NM_015305.4(ANGEL1):c.1294G>A (p.Gly432Arg)	ANGEL1 (G432R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118103	NM_015305.4(ANGEL1):c.1258C>G (p.Leu420Val)	ANGEL1 (L420V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309867	NM_015305.4(ANGEL1):c.1235C>T (p.Ala412Val)	ANGEL1 (A412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263882	NM_015305.4(ANGEL1):c.1201G>A (p.Asp401Asn)	ANGEL1 (D401N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118094	NM_015305.4(ANGEL1):c.1177A>G (p.Ile393Val)	ANGEL1 (I393V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3118093	NM_015305.4(ANGEL1):c.1154C>T (p.Pro385Leu)	ANGEL1 (P385L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534886	NM_015305.4(ANGEL1):c.1154C>A (p.Pro385Gln)	ANGEL1 (P385Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471719	NM_015305.4(ANGEL1):c.1136G>A (p.Gly379Glu)	ANGEL1 (G379E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118078	NM_015305.4(ANGEL1):c.1120G>A (p.Val374Ile)	ANGEL1 (V374I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396355	NM_015305.4(ANGEL1):c.1114C>G (p.Pro372Ala)	ANGEL1 (P372A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406592	NM_015305.4(ANGEL1):c.1030C>G (p.Leu344Val)	ANGEL1 (L344V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118072	NM_015305.4(ANGEL1):c.1024C>T (p.Arg342Cys)	ANGEL1 (R342C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118189	NM_015305.4(ANGEL1):c.998C>G (p.Ala333Gly)	ANGEL1 (A333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526139	NM_015305.4(ANGEL1):c.995G>C (p.Cys332Ser)	ANGEL1 (C332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339534	NM_015305.4(ANGEL1):c.940A>T (p.Met314Leu)	ANGEL1 (M314L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118179	NM_015305.4(ANGEL1):c.863A>G (p.His288Arg)	ANGEL1 (H288R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464790	NM_015305.4(ANGEL1):c.833G>A (p.Arg278His)	ANGEL1 (R278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377746	NM_015305.4(ANGEL1):c.821A>G (p.Asn274Ser)	ANGEL1 (N274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606124	NM_015305.4(ANGEL1):c.651A>C (p.Glu217Asp)	ANGEL1 (E217D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600193	NM_015305.4(ANGEL1):c.596C>T (p.Pro199Leu)	ANGEL1 (P199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490119	NM_015305.4(ANGEL1):c.478G>A (p.Asp160Asn)	ANGEL1 (D160N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118168	NM_015305.4(ANGEL1):c.461C>T (p.Ser154Leu)	ANGEL1 (S154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118163	NM_015305.4(ANGEL1):c.347A>G (p.Asp116Gly)	ANGEL1 (D116G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118158	NM_015305.4(ANGEL1):c.263A>G (p.Gln88Arg)	ANGEL1 (Q88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118155	NM_015305.4(ANGEL1):c.226G>C (p.Ala76Pro)	ANGEL1 (A76P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279962	NM_015305.4(ANGEL1):c.202G>T (p.Gly68Trp)	ANGEL1 (G68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341108	NM_015305.4(ANGEL1):c.194G>A (p.Arg65Gln)	ANGEL1 (R65Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118114	NM_015305.4(ANGEL1):c.148C>T (p.Arg50Trp)	ANGEL1 (R50W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118087	NM_015305.4(ANGEL1):c.113C>T (p.Ser38Phe)	ANGEL1 (S38F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519068	NM_015305.4(ANGEL1):c.53G>A (p.Arg18His)	ANGEL1 (R18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623511	NM_015305.4(ANGEL1):c.44G>A (p.Arg15His)	ANGEL1 (R15H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063325	GRCh37/hg19 14q24.3(chr14:76740491-77334658)x3	ANGEL1, ESRRB +2 more	Copy number gain	not specified	GUncertain significance
Select item 2684736	GRCh37/hg19 14q24.3(chr14:77067628-77320585)x3	ANGEL1, LRRC74A +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527827	GRCh37/hg19 14q24.3(chr14:76740033-77334658)	ANGEL1, ESRRB +2 more	Copy number gain	not specified	GUncertain significance
Select item 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 564124	GRCh37/hg19 14q24.3(chr14:76740033-77334658)x3	LRRC74A, ESRRB +2 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 441709	GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1	ADCK1, AHSA1 +27 more	Copy number loss	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	RBM25, LIN52 +59 more	Deletion	Intellectual disability, mild +3 more	GLikely pathogenic

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Items: 64