ClinVar for Gene (Select 4128) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066391	NM_000240.4(MAOA):c.1433C>G (p.Ser478Ter)	MAOA (S345* +1 more)	Single nucleotide variant (nonsense)	Brunner syndrome	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3055013	NM_000240.4(MAOA):c.1367C>A (p.Ala456Asp)	MAOA (A323D +1 more)	Single nucleotide variant (missense variant)	MAOA-related condition	GUncertain significance
Select item 3024250	NM_000240.4(MAOA):c.796-10T>C	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GUncertain significance
Select item 3022858	NM_000240.4(MAOA):c.1390G>A (p.Gly464Arg)	MAOA (G331R +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome	GUncertain significance
Select item 3017094	NM_000240.4(MAOA):c.188T>C (p.Val63Ala)	MAOA (V63A)	Single nucleotide variant (missense variant +1 more)	Brunner syndrome	GUncertain significance
Select item 2985275	NM_000240.4(MAOA):c.1106+15C>T	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 2965279	NM_000240.4(MAOA):c.736C>A (p.His246Asn)	MAOA (H113N +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome	GUncertain significance
Select item 2913554	NM_000240.4(MAOA):c.1052+4G>C	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GUncertain significance
Select item 2912408	NM_000240.4(MAOA):c.163A>C (p.Ile55Leu)	MAOA (I55L)	Single nucleotide variant (missense variant +1 more)	Brunner syndrome	GUncertain significance
Select item 2905825	NM_000240.4(MAOA):c.645+13T>A	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GUncertain significance
Select item 2903491	NM_000240.4(MAOA):c.421G>A (p.Asp141Asn)	MAOA (D141N +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome	GUncertain significance
Select item 2897222	NM_000240.4(MAOA):c.74-9T>A	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 2893850	NM_000240.4(MAOA):c.1094A>G (p.His365Arg)	MAOA (H365R +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome	GUncertain significance
Select item 2870984	NM_000240.4(MAOA):c.933G>A (p.Lys311=)	MAOA	Single nucleotide variant (synonymous variant)	Brunner syndrome	GLikely benign
Select item 2870983	NM_000240.4(MAOA):c.831G>A (p.Leu277=)	MAOA	Single nucleotide variant (synonymous variant)	Brunner syndrome	GLikely benign
Select item 2812238	NM_000240.4(MAOA):c.56T>C (p.Ile19Thr)	MAOA (I19T)	Single nucleotide variant (5 prime UTR variant +1 more)	Brunner syndrome	GUncertain significance
Select item 2806648	NM_000240.4(MAOA):c.73+19G>C	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 2730520	NM_000240.4(MAOA):c.186C>T (p.Tyr62=)	MAOA	Single nucleotide variant (synonymous variant +1 more)	Brunner syndrome	GLikely benign
Select item 2726923	NM_000240.4(MAOA):c.412-20G>A	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 2724563	NM_000240.4(MAOA):c.1279G>A (p.Val427Met)	MAOA (V294M +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome	GUncertain significance
Select item 2718102	NM_000240.4(MAOA):c.307-19G>C	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 2698771	NM_000240.4(MAOA):c.163A>G (p.Ile55Val)	MAOA (I55V)	Single nucleotide variant (missense variant +1 more)	Brunner syndrome	GUncertain significance
Select item 2697823	NM_000240.4(MAOA):c.796-15T>G	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 2689394	NM_000240.4(MAOA):c.1081C>G (p.Leu361Val)	MAOA (L228V +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome	GUncertain significance
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685701	GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1	XK, ARX +51 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2685063	GRCh37/hg19 Xp11.4-11.23(chrX:42046069-46491183)x0	CHST7, DIPK2B +12 more	Copy number loss	not provided	GPathogenic
Select item 2660358	NM_000240.4(MAOA):c.1262+3A>G	MAOA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2633060	NM_000240.4(MAOA):c.1039C>T (p.Pro347Ser)	MAOA (P214S +1 more)	Single nucleotide variant (missense variant)	MAOA-related condition	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 2571365	NM_000240.4(MAOA):c.476A>G (p.Glu159Gly)	MAOA (E159G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571364	NM_000240.4(MAOA):c.166del (p.Arg56fs)	MAOA (R56fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2551270	NM_000240.4(MAOA):c.1514T>C (p.Ile505Thr)	MAOA (I505T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2505241	NM_000240.3(MAOA):c.-566C>T	MAOA	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 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 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 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 2426670	NC_000023.10:g.(?_43515590)_(44970656_?)del	DUSP21, EFHC2 +5 more	Deletion	Kabuki syndrome 2	GPathogenic
Select item 2422624	NC_000023.10:g.(?_43515590)_(43817891_?)del	MAOA, MAOB +1 more	Deletion	not provided	GPathogenic
Select item 2407239	NM_000240.4(MAOA):c.635A>G (p.Asn212Ser)	MAOA (N79S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2337203	NM_000240.4(MAOA):c.565G>T (p.Val189Leu)	MAOA (V189L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2310035	NM_000240.4(MAOA):c.1448C>A (p.Ala483Glu)	MAOA (A350E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2310033	NM_000240.4(MAOA):c.1447G>A (p.Ala483Thr)	MAOA (A483T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299098	NM_000240.4(MAOA):c.1549G>A (p.Val517Met)	MAOA (V517M +1 more)	Single nucleotide variant (missense variant)	MAOA-related condition +2 more	GUncertain significance
Select item 2281257	NM_000240.4(MAOA):c.168+3A>G	MAOA	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2274887	NM_000240.4(MAOA):c.355A>G (p.Ile119Val)	MAOA (I119V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252876	NM_000240.4(MAOA):c.448G>A (p.Asp150Asn)	MAOA (D150N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2167098	NM_000240.4(MAOA):c.1401C>T (p.Thr467=)	MAOA	Single nucleotide variant (synonymous variant)	Brunner syndrome	GLikely benign
Select item 2154547	NM_000240.4(MAOA):c.1299G>A (p.Ala433=)	MAOA	Single nucleotide variant (synonymous variant)	Brunner syndrome	GLikely benign
Select item 2152492	NM_000240.4(MAOA):c.306+18C>A	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 2150121	NM_000240.4(MAOA):c.804C>T (p.Tyr268=)	MAOA	Single nucleotide variant (synonymous variant)	Brunner syndrome	GLikely benign
Select item 2128067	NM_000240.4(MAOA):c.576G>T (p.Leu192=)	MAOA	Single nucleotide variant (synonymous variant)	Brunner syndrome	GLikely benign
Select item 2123659	NM_000240.4(MAOA):c.1215C>T (p.Gly405=)	MAOA	Single nucleotide variant (synonymous variant)	Brunner syndrome	GLikely benign
Select item 2106514	NM_000240.4(MAOA):c.1437+4A>T	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GUncertain significance
Select item 2103695	NM_000240.4(MAOA):c.1549G>C (p.Val517Leu)	MAOA (V384L +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome	GUncertain significance
Select item 2095297	NM_000240.4(MAOA):c.307-18T>C	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 2074487	NM_000240.4(MAOA):c.650G>A (p.Arg217Gln)	MAOA (R217Q +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome	GUncertain significance
Select item 2060826	NM_000240.4(MAOA):c.1418T>C (p.Val473Ala)	MAOA (V473A +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome	GUncertain significance
Select item 2060608	NM_000240.4(MAOA):c.955+4G>A	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GUncertain significance
Select item 2044281	NM_000240.4(MAOA):c.1263-16C>G	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GBenign
Select item 2040131	NM_000240.4(MAOA):c.1165-18T>G	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GBenign
Select item 2035985	NM_000240.4(MAOA):c.1437+11T>C	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 2030833	NM_000240.4(MAOA):c.1375-14T>C	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 2017878	NM_000240.4(MAOA):c.1164+7A>C	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 2012172	NM_000240.4(MAOA):c.1253A>G (p.Gln418Arg)	MAOA (Q285R +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome	GUncertain significance
Select item 1946510	NM_000240.4(MAOA):c.1279G>T (p.Val427Leu)	MAOA (V294L +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome	GUncertain significance
Select item 1942663	NM_000240.4(MAOA):c.1052+17T>G	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 1904445	NM_000240.4(MAOA):c.1564A>G (p.Lys522Glu)	MAOA (K389E +1 more)	Single nucleotide variant (missense variant)	Brunner syndrome	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 1808692	GRCh37/hg19 Xp11.4-11.3(chrX:41350855-44616591)x0	CASK, EFHC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
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 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 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 1772862	NM_000240.4(MAOA):c.1449G>A (p.Ala483=)	MAOA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1760453	NM_000240.4(MAOA):c.774G>A (p.Thr258=)	MAOA	Single nucleotide variant (synonymous variant)	Brunner syndrome +1 more	GLikely benign
Select item 1751227	NM_000240.4(MAOA):c.603C>T (p.Cys201=)	MAOA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1737462	NM_000240.4(MAOA):c.405G>A (p.Gly135=)	MAOA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1691072	NM_000240.4(MAOA):c.933G>T (p.Lys311Asn)	MAOA (K178N +1 more)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 1674092	NM_000240.4(MAOA):c.1052+14G>A	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 1673708	NM_000240.4(MAOA):c.1119C>A (p.Ile373=)	MAOA	Single nucleotide variant (synonymous variant)	Brunner syndrome	GLikely benign
Select item 1671438	NM_000240.4(MAOA):c.1375-17T>C	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 1630046	NM_000240.4(MAOA):c.1389C>T (p.Leu463=)	MAOA	Single nucleotide variant (synonymous variant)	Brunner syndrome	GLikely benign
Select item 1627611	NM_000240.4(MAOA):c.1262+18C>T	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 1614118	NM_000240.4(MAOA):c.412-13C>T	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GLikely benign
Select item 1611732	NM_000240.4(MAOA):c.15G>A (p.Glu5=)	MAOA	Single nucleotide variant (synonymous variant +1 more)	Brunner syndrome	GLikely benign
Select item 1601403	NM_000240.4(MAOA):c.306+16C>A	MAOA	Single nucleotide variant (intron variant)	Brunner syndrome	GBenign

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