AGMO[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	LOC129997985, LOC129997986 +560 more	Copy number gain	See cases	GPathogenic
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC123924901, LOC123924902 +331 more	Copy number loss	See cases	GPathogenic
Select item 154585	GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1	AGMO, ARL4A +62 more	Copy number loss	See cases	GPathogenic
Select item 147493	GRCh38/hg38 7p21.3-21.2(chr7:13262814-15234164)x3	AGMO, DGKB +12 more	Copy number gain	See cases	GUncertain significance
Select item 147793	GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1	AGMO, AGR2 +59 more	Copy number loss	See cases	GPathogenic
Select item 155461	GRCh38/hg38 7p21.2(chr7:14844332-15574557)x3	AGMO, DGKB +1 more	Copy number gain	See cases	GUncertain significance
Select item 144255	GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1	AGMO, AGR2 +23 more	Copy number loss	See cases	GPathogenic
Select item 58520	GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1	AGMO, AGR2 +67 more	Copy number loss	See cases	GPathogenic
Select item 3096076	NM_001004320.2(AGMO):c.1328C>G (p.Pro443Arg)	AGMO (P443R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250263	NM_001004320.2(AGMO):c.1307T>C (p.Met436Thr)	AGMO (M436T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343103	NM_001004320.2(AGMO):c.1276A>G (p.Ile426Val)	AGMO (I426V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434105	NM_001004320.2(AGMO):c.1263+8del	AGMO	Deletion (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1301548	NM_001004320.2(AGMO):c.1263+1dup	AGMO	Duplication (splice donor variant)	not specified	GUncertain significance
Select item 3096067	NM_001004320.2(AGMO):c.1258T>G (p.Phe420Val)	AGMO (F420V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633128	NM_001004320.2(AGMO):c.1234C>A (p.Leu412Ile)	AGMO (L412I)	Single nucleotide variant (missense variant)	AGMO-related condition	GUncertain significance
Select item 3033422	NM_001004320.2(AGMO):c.1224C>T (p.His408=)	AGMO	Single nucleotide variant (synonymous variant)	AGMO-related condition	GLikely benign
Select item 727299	NM_001004320.2(AGMO):c.1221T>G (p.Gly407=)	AGMO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1336027	NM_001004320.2(AGMO):c.1214G>A (p.Arg405Gln)	AGMO (R405Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 501883	NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter)	AGMO (R405*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 3096060	NM_001004320.2(AGMO):c.1187G>A (p.Arg396His)	AGMO (R396H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038022	NM_001004320.2(AGMO):c.1183C>G (p.Leu395Val)	AGMO (L395V)	Single nucleotide variant (missense variant)	AGMO-related condition	GBenign
Select item 3045580	NM_001004320.2(AGMO):c.1181C>G (p.Thr394Ser)	AGMO (T394S)	Single nucleotide variant (missense variant)	AGMO-related condition	GLikely benign
Select item 3096056	NM_001004320.2(AGMO):c.1147C>G (p.Leu383Val)	AGMO (L383V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096054	NM_001004320.2(AGMO):c.1137T>G (p.Ile379Met)	AGMO (I379M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458006	NM_001004320.2(AGMO):c.1116T>G (p.Ile372Met)	AGMO (I372M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701699	NM_001004320.2(AGMO):c.1098_1100del (p.Leu367del)	AGMO (L367del)	Deletion (inframe_deletion)	AGMO-related Neurodevelopmental disorder	GUncertain significance
Select item 2317763	NM_001004320.2(AGMO):c.1096C>T (p.Leu366Phe)	AGMO (L366F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039486	NM_001004320.2(AGMO):c.1074+10A>G	AGMO	Single nucleotide variant (intron variant)	AGMO-related condition	GLikely benign
Select item 2375856	NM_001004320.2(AGMO):c.1054G>A (p.Glu352Lys)	AGMO (E352K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301431	NM_001004320.2(AGMO):c.1049A>G (p.Tyr350Cys)	AGMO (Y350C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2265105	NM_001004320.2(AGMO):c.1021G>A (p.Val341Ile)	AGMO (V341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429684	NM_001004320.2(AGMO):c.1016_1017del (p.Thr339fs)	AGMO (T339fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3096035	NM_001004320.2(AGMO):c.1012T>C (p.Tyr338His)	AGMO (Y338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336028	NM_001004320.2(AGMO):c.1011A>G (p.Ile337Met)	AGMO (I337M)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3096030	NM_001004320.2(AGMO):c.1009A>C (p.Ile337Leu)	AGMO (I337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215011	NM_001004320.2(AGMO):c.977C>T (p.Pro326Leu)	AGMO (P326L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2690855	NM_001004320.2(AGMO):c.970G>T (p.Glu324Ter)	AGMO (E324*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2603624	NM_001004320.2(AGMO):c.964G>A (p.Gly322Ser)	AGMO (G322S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341726	NM_001004320.2(AGMO):c.957_957+18del	AGMO	Deletion (splice donor variant)	See cases	GLikely pathogenic
Select item 3096169	NM_001004320.2(AGMO):c.937C>G (p.Leu313Val)	AGMO (L313V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375858	NM_001004320.2(AGMO):c.905C>T (p.Pro302Leu)	AGMO (P302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044878	NM_001004320.2(AGMO):c.904C>T (p.Pro302Ser)	AGMO (P302S)	Single nucleotide variant (missense variant)	AGMO-related condition	GUncertain significance
Select item 3040600	NM_001004320.2(AGMO):c.851C>T (p.Thr284Ile)	AGMO (T284I)	Single nucleotide variant (missense variant)	AGMO-related condition	GBenign
Select item 3096157	NM_001004320.2(AGMO):c.843A>G (p.Ile281Met)	AGMO (I281M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577601	NM_001004320.2(AGMO):c.842dup (p.Trp282fs)	AGMO (W282fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1336104	NM_001004320.2(AGMO):c.841A>G (p.Ile281Val)	AGMO (I281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056029	NM_001004320.2(AGMO):c.839C>A (p.Ser280Tyr)	AGMO (S280Y)	Single nucleotide variant (missense variant)	AGMO-related condition	GBenign
Select item 3096148	NM_001004320.2(AGMO):c.815A>G (p.Lys272Arg)	AGMO (K272R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2637247	NM_001004320.2(AGMO):c.790C>T (p.Pro264Ser)	AGMO (P264S)	Single nucleotide variant (missense variant)	AGMO-related condition	GUncertain significance
Select item 1042080	NM_001004320.2(AGMO):c.712G>T (p.Gly238Cys)	AGMO (G238C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180394	NM_001004320.2(AGMO):c.706_708del (p.Tyr236del)	AGMO (Y236del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 501880	NM_001004320.2(AGMO):c.701A>G (p.Lys234Arg)	AGMO (K234R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2401684	NM_001004320.2(AGMO):c.686G>A (p.Arg229His)	AGMO (R229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330903	NM_001004320.2(AGMO):c.682A>G (p.Asn228Asp)	AGMO (N228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434104	NM_001004320.2(AGMO):c.653C>T (p.Pro218Leu)	AGMO (P218L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2259564	NM_001004320.2(AGMO):c.643C>G (p.Leu215Val)	AGMO (L215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096134	NM_001004320.2(AGMO):c.637C>G (p.Leu213Val)	AGMO (L213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378419	NM_001004320.2(AGMO):c.622C>T (p.Leu208Phe)	AGMO (L208F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701700	NM_001004320.2(AGMO):c.621C>G (p.Asn207Lys)	AGMO (N207K)	Single nucleotide variant (missense variant)	AGMO-related Neurodevelopmental disorder	GUncertain significance
Select item 2489418	NM_001004320.2(AGMO):c.610G>C (p.Val204Leu)	AGMO (V204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1236929	NM_001004320.2(AGMO):c.606A>G (p.Thr202=)	AGMO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1336470	NM_001004320.2(AGMO):c.598A>T (p.Ile200Phe)	AGMO (I200F)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2411819	NM_001004320.2(AGMO):c.592T>A (p.Phe198Ile)	AGMO (F198I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096120	NM_001004320.2(AGMO):c.547C>G (p.Pro183Ala)	AGMO (P183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472949	NM_001004320.2(AGMO):c.539T>G (p.Phe180Cys)	AGMO (F180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1314029	NM_001004320.2(AGMO):c.529C>G (p.Leu177Val)	AGMO (L177V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716876	NM_001004320.2(AGMO):c.519C>T (p.Phe173=)	AGMO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2240553	NM_001004320.2(AGMO):c.482G>A (p.Arg161Lys)	AGMO (R161K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291268	NM_001004320.2(AGMO):c.475G>A (p.Ala159Thr)	AGMO (A159T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587964	NM_001004320.2(AGMO):c.466T>A (p.Leu156Ile)	AGMO (L156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790038	NM_001004320.2(AGMO):c.429C>T (p.Ala143=)	AGMO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3096111	NM_001004320.2(AGMO):c.416A>G (p.Asn139Ser)	AGMO (N139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152252	GRCh38/hg38 7p21.2(chr7:15533812-15855669)x1	AGMO, LINC02587 +3 more	Copy number loss	See cases	GLikely benign
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	LOC129998080, LOC129998081 +248 more	Copy number loss	See cases	GPathogenic
Select item 1301491	NM_001004320.2(AGMO):c.397C>T (p.Arg133Cys)	AGMO (R133C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299452	NM_001004320.2(AGMO):c.389G>A (p.Trp130Ter)	AGMO (W130*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2335424	NM_001004320.2(AGMO):c.331T>G (p.Trp111Gly)	AGMO (W111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594928	NM_001004320.2(AGMO):c.323A>G (p.Asn108Ser)	AGMO (N108S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096099	NM_001004320.2(AGMO):c.319T>C (p.Phe107Leu)	AGMO (F107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204550	NM_001004320.2(AGMO):c.256A>G (p.Ser86Gly)	AGMO (S86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531396	NM_001004320.2(AGMO):c.248G>A (p.Arg83Gln)	AGMO (R83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347451	NM_001004320.2(AGMO):c.203G>A (p.Arg68His)	AGMO (R68H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250672	NM_001004320.2(AGMO):c.166G>C (p.Val56Leu)	AGMO (V56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434103	NM_001004320.2(AGMO):c.148T>A (p.Leu50Met)	AGMO (L50M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261367	NM_001004320.2(AGMO):c.146C>A (p.Ser49Tyr)	AGMO (S49Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096041	NM_001004320.2(AGMO):c.103G>C (p.Glu35Gln)	AGMO (E35Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716356	NM_001004320.2(AGMO):c.92A>G (p.Gln31Arg)	AGMO (Q31R)	Single nucleotide variant (missense variant)	AGMO-related condition +1 more	GLikely benign
Select item 3096151	NM_001004320.2(AGMO):c.83C>T (p.Thr28Ile)	AGMO (T28I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259166	NM_001004320.2(AGMO):c.70A>G (p.Lys24Glu)	AGMO (K24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776597	NM_001004320.2(AGMO):c.60_61dup (p.Tyr21fs)	AGMO (Y21fs)	Duplication (frameshift variant)	not specified +1 more	GBenign
Select item 787049	NM_001004320.2(AGMO):c.26A>T (p.Asp9Val)	AGMO (D9V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768142	NM_001004320.2(AGMO):c.22C>G (p.Gln8Glu)	AGMO (Q8E)	Single nucleotide variant (missense variant)	not provided	GBenign

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