ClinVar for Gene (Select 183) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351636	NM_001384479.1(AGT):c.384G>C (p.Thr128=)	AGT	Single nucleotide variant (synonymous variant)	AGT-related disorder	GLikely benign
Select item 3276631	NM_001384479.1(AGT):c.738G>A (p.Met246Ile)	AGT (M246I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276620	NM_001384479.1(AGT):c.350G>A (p.Gly117Asp)	AGT (G117D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276609	NM_001384479.1(AGT):c.21C>A (p.Ser7Arg)	AGT (S7R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276598	NM_001384479.1(AGT):c.1138T>A (p.Ser380Thr)	AGT (S380T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276580	NM_001384479.1(AGT):c.668C>T (p.Pro223Leu)	AGT (P223L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097223	NM_001384479.1(AGT):c.625C>T (p.His209Tyr)	AGT (H209Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097217	NM_001384479.1(AGT):c.10G>A (p.Ala4Thr)	AGT (A4T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097216	NM_001384479.1(AGT):c.338G>A (p.Ser113Asn)	AGT (S113N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097211	NM_001384479.1(AGT):c.287T>C (p.Met96Thr)	AGT (M96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2995299	NM_001384479.1(AGT):c.810C>T (p.Asn270=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986796	NM_001384479.1(AGT):c.255A>G (p.Lys85=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972789	NM_001384479.1(AGT):c.1179C>T (p.Pro393=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968685	NM_001384479.1(AGT):c.-24C>T	AGT	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2966712	NM_001384479.1(AGT):c.1017C>T (p.His339=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868380	NM_001384479.1(AGT):c.669T>G (p.Pro223=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840043	NM_001384479.1(AGT):c.1125G>A (p.Leu375=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2727285	NM_001384479.1(AGT):c.21C>T (p.Ser7=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713775	NM_001384479.1(AGT):c.1194C>T (p.Thr398=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710391	NM_001384479.1(AGT):c.105C>A (p.Val35=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690863	NM_001384479.1(AGT):c.1351T>A (p.Phe451Ile)	AGT (F451I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690862	NM_001384479.1(AGT):c.749del (p.Thr250fs)	AGT (T250fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2636397	NM_001384479.1(AGT):c.323T>G (p.Ile108Arg)	AGT (I108R)	Single nucleotide variant (missense variant)	AGT-related disorder	GUncertain significance
Select item 2614901	NM_001384479.1(AGT):c.992C>G (p.Ala331Gly)	AGT (A331G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2510586	NM_001384479.1(AGT):c.234G>T (p.Gln78His)	AGT (Q78H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471920	NM_001384479.1(AGT):c.1379C>A (p.Ala460Asp)	AGT (A460D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425915	NC_000001.10:g.(?_229567246)_(231413288_?)del	ABCB10, ACTA1 +15 more	Deletion	not provided	GPathogenic
Select item 2425124	NC_000001.10:g.(?_230203028)_(231413288_?)del	AGT, ARV1 +10 more	Deletion	Congenital disorder of glycosylation, type IIq	GPathogenic
Select item 2417262	NM_001384479.1(AGT):c.684C>T (p.Arg228=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416480	NM_001384479.1(AGT):c.1405G>A (p.Val469Met)	AGT (V469M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414356	NM_001384479.1(AGT):c.53G>A (p.Trp18Ter)	AGT (W18*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2348800	NM_001384479.1(AGT):c.770C>T (p.Ser257Phe)	AGT (S257F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328349	NM_001384479.1(AGT):c.803C>A (p.Ala268Asp)	AGT (A268D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277986	NM_001384479.1(AGT):c.332T>C (p.Met111Thr)	AGT (M111T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2247886	NM_001384479.1(AGT):c.782C>G (p.Ala261Gly)	AGT (A261G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237097	NM_001384479.1(AGT):c.983C>T (p.Thr328Ile)	AGT (T328I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226885	NM_001384479.1(AGT):c.1346G>A (p.Arg449His)	AGT (R449H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222328	NM_001384479.1(AGT):c.151G>A (p.Gly51Arg)	AGT (G51R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188998	NM_001384479.1(AGT):c.858C>T (p.Ala286=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177884	NM_001384479.1(AGT):c.703C>T (p.Leu235=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177676	NM_001384479.1(AGT):c.1207C>A (p.Gln403Lys)	AGT (Q403K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176272	NM_001384479.1(AGT):c.594G>A (p.Thr198=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175736	NM_001384479.1(AGT):c.303C>T (p.Ala101=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175735	NM_001384479.1(AGT):c.817G>A (p.Val273Ile)	AGT (V273I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175734	NM_001384479.1(AGT):c.894A>C (p.Ser298=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172461	NM_001384479.1(AGT):c.1404C>T (p.Arg468=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168274	NM_001384479.1(AGT):c.185C>T (p.Pro62Leu)	AGT (P62L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2163877	NM_001384479.1(AGT):c.150C>T (p.Ala50=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157223	NM_001384479.1(AGT):c.1097+8C>T	AGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2153903	NM_001384479.1(AGT):c.103G>A (p.Val35Ile)	AGT (V35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140690	NM_001384479.1(AGT):c.382A>G (p.Thr128Ala)	AGT (T128A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135150	NM_001384479.1(AGT):c.203C>G (p.Ser68Cys)	AGT (S68C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119106	NM_001384479.1(AGT):c.1332G>A (p.Glu444=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091998	NM_001384479.1(AGT):c.511G>A (p.Val171Ile)	AGT (V171I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067404	NM_001384479.1(AGT):c.914C>G (p.Ser305Cys)	AGT (S305C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063617	NM_001384479.1(AGT):c.763G>A (p.Gly255Ser)	AGT (G255S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2060625	NM_001384479.1(AGT):c.221C>T (p.Ala74Val)	AGT (A74V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2060541	NM_001384479.1(AGT):c.370G>A (p.Val124Ile)	AGT (V124I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2057215	NM_001384479.1(AGT):c.1403G>A (p.Arg468His)	AGT (R468H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055818	NM_001384479.1(AGT):c.-17G>C	AGT	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2044138	NM_001384479.1(AGT):c.351C>T (p.Gly117=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2043711	NM_001384479.1(AGT):c.246C>T (p.Val82=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2027607	NM_001384479.1(AGT):c.933G>A (p.Gln311=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989009	NM_000029.4(AGT):c.1429C>T (p.Arg477Cys)	AGT	Single nucleotide variant	not provided	GUncertain significance
Select item 1987363	NM_001384479.1(AGT):c.310T>C (p.Leu104=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986862	NM_001384479.1(AGT):c.1365G>A (p.Val455=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982309	NM_001384479.1(AGT):c.1236G>C (p.Val412=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928642	NM_001384479.1(AGT):c.494G>A (p.Arg165Gln)	AGT (R165Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927847	NM_001384479.1(AGT):c.-17G>A	AGT	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1909192	NM_001384479.1(AGT):c.1243-12G>T	AGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899409	NM_001384479.1(AGT):c.830-11C>G	AGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897038	NM_001384479.1(AGT):c.830-15C>T	AGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896190	NM_001384479.1(AGT):c.603C>T (p.Gly201=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1664986	NM_001384479.1(AGT):c.830-20G>A	AGT	Single nucleotide variant (intron variant)	Renal tubular dysgenesis of genetic origin +2 more	GLikely benign
Select item 1623773	NM_001384479.1(AGT):c.1180_1182dup (p.Ala394dup)	AGT	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 1601973	NM_001384479.1(AGT):c.286A>G (p.Met96Val)	AGT (M96V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1585944	NM_001384479.1(AGT):c.264C>T (p.Thr88=)	AGT	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1557050	NM_001384479.1(AGT):c.388G>C (p.Val130Leu)	AGT (V130L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1527603	GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538)	ABCB10, ACTA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1478252	NM_001384479.1(AGT):c.13G>A (p.Gly5Ser)	AGT (G5S)	Single nucleotide variant (missense variant)	Essential hypertension, genetic +2 more	GUncertain significance
Select item 1459353	NC_000001.10:g.(?_230838887)_(230846596_?)del	AGT	Deletion	not provided	GPathogenic
Select item 1440909	NM_001384479.1(AGT):c.1097G>T (p.Arg366Leu)	AGT (R366L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415360	NM_001384479.1(AGT):c.65C>G (p.Ala22Gly)	AGT (A22G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411795	NC_000001.10:g.(?_229567246)_(232172577_?)dup	ABCB10, ACTA1 +21 more	Duplication	Actin accumulation myopathy	GUncertain significance
Select item 1405037	NM_001384479.1(AGT):c.952G>C (p.Asp318His)	AGT (D318H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1387900	NM_001384479.1(AGT):c.1315A>G (p.Lys439Glu)	AGT (K439E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328411	NM_001384479.1(AGT):c.76C>T (p.Arg26Trp)	AGT (R26W)	Single nucleotide variant (missense variant)	Essential hypertension, genetic +2 more	GConflicting classifications of pathogenicity
Select item 1328402	NM_001384479.1(AGT):c.1263dup (p.Glu422Ter)	AGT (E422*)	Duplication (nonsense)	Large fontanelles +1 more	GLikely pathogenic
Select item 1328401	NM_001384479.1(AGT):c.161_162delinsT (p.Lys54fs)	AGT (K54fs)	Indel (frameshift variant)	Large fontanelles +1 more	GLikely pathogenic
Select item 1306360	NM_001384479.1(AGT):c.380C>T (p.Pro127Leu)	AGT (P127L)	Single nucleotide variant (missense variant)	Essential hypertension, genetic +2 more	GUncertain significance
Select item 1288046	NM_001384479.1(AGT):c.1097+170T>C	AGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280906	NM_001384479.1(AGT):c.1098-114G>T	AGT	Single nucleotide variant (intron variant)	not provided	GBenign

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