"GeneDx"[submitter] AND "MAOA"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59265	GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1	ARAF, CASK +152 more	Copy number loss	See cases	GPathogenic
Select item 59269	GRCh38/hg38 Xp11.4-11.3(chrX:41823849-44240337)x1	CASK, EFHC2 +19 more	Copy number loss	See cases	GPathogenic
Select item 146001	GRCh38/hg38 Xp11.3(chrX:43640608-44123496)x2	MAOA, MAOB +2 more	Copy number gain	See cases	GPathogenic
Select item 3372182	NM_000240.4(MAOA):c.13G>C (p.Glu5Gln)	MAOA (E5Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252761	NM_000240.4(MAOA):c.20C>T (p.Ala7Val)	MAOA (A7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 429999	NM_000240.4(MAOA):c.95T>C (p.Leu32Ser)	MAOA (L32S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 208353	NM_000240.4(MAOA):c.133C>T (p.Arg45Trp)	MAOA (R45W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1202452	NM_000240.4(MAOA):c.148G>A (p.Gly50Arg)	MAOA (G50R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1307018	NM_000240.4(MAOA):c.172G>A (p.Glu58Lys)	MAOA (E58K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1306647	NM_000240.4(MAOA):c.187G>A (p.Val63Ile)	MAOA (V63I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1800825	NM_000240.4(MAOA):c.236G>A (p.Arg79His)	MAOA (R79H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499718	NM_000240.4(MAOA):c.256A>G (p.Ile86Val)	MAOA (I86V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309136	NM_000240.4(MAOA):c.280A>G (p.Ser94Gly)	MAOA (S94G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3372045	NM_000240.4(MAOA):c.317A>T (p.Tyr106Phe)	MAOA (Y106F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1361377	NM_000240.4(MAOA):c.325C>T (p.Arg109Trp)	MAOA (R109W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2446685	NM_000240.4(MAOA):c.385A>T (p.Arg129Trp)	MAOA (R129W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1810092	NM_000240.4(MAOA):c.411G>A (p.Glu137=)	MAOA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 451276	NM_000240.4(MAOA):c.424G>T (p.Ala142Ser)	MAOA (A142S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803293	NM_000240.4(MAOA):c.542A>G (p.Asn181Ser)	MAOA (N181S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373359	NM_000240.4(MAOA):c.572C>T (p.Ala191Val)	MAOA (A191V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707988	NM_000240.4(MAOA):c.647A>G (p.Glu216Gly)	MAOA (E216G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367391	NM_000240.4(MAOA):c.685C>T (p.Arg229Trp)	MAOA (R229W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319262	NM_000240.4(MAOA):c.710A>T (p.Gln237Leu)	MAOA (Q104L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500678	NM_000240.4(MAOA):c.738C>G (p.His246Gln)	MAOA (H113Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491119	NM_000240.4(MAOA):c.766A>G (p.Ile256Val)	MAOA (I123V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 504262	NM_000240.4(MAOA):c.795+1G>A	MAOA	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 3365600	NM_000240.4(MAOA):c.948G>T (p.Lys316Asn)	MAOA (K183N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660358	NM_000240.4(MAOA):c.1262+3A>G	MAOA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 451098	NM_000240.4(MAOA):c.1263-2A>G	MAOA	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2504508	NM_000240.4(MAOA):c.1267A>G (p.Ile423Val)	MAOA (I290V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803335	NM_000240.4(MAOA):c.1315A>G (p.Thr439Ala)	MAOA (T306A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340552	NM_000240.4(MAOA):c.1327G>A (p.Gly443Ser)	MAOA (G310S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574410	NM_000240.4(MAOA):c.1496C>G (p.Ser499Cys)	MAOA (S366C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2299098	NM_000240.4(MAOA):c.1549G>A (p.Val517Met)	MAOA (V517M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3360271	NM_000240.4(MAOA):c.1270C>T (p.Arg424Cys)	MAOA (R291C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359661	NM_000240.4(MAOA):c.956A>C (p.Asp319Ala)	MAOA (D186A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 51