183[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57819	GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)x3	AGT, ARV1 +66 more	Copy number gain	See cases	GUncertain significance
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
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 57820	GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3	AGT, ARV1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 161003	GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3	AGT, ARV1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 32991	GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3	AGT, ARV1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 60111	GRCh38/hg38 1q42.2(chr1:230693760-230780212)x1	AGT, CAPN9 +3 more	Copy number loss	See cases	GPathogenic
Select item 368868	NC_000001.11:g.230702512G>A	AGT	Single nucleotide variant	not provided +1 more	GBenign
Select item 873936	NC_000001.11:g.230702527T>C	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 296063	NC_000001.11:g.230702585G>T	AGT	Single nucleotide variant	not provided +1 more	GBenign
Select item 296064	NC_000001.11:g.230702627C>T	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 296065	NC_000001.11:g.230702628G>T	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 296066	NC_000001.11:g.230702633G>A	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 296067	NC_000001.11:g.230702718A>C	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 296068	NC_000001.11:g.230702757T>G	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 874884	NC_000001.11:g.230702794C>T	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 874885	NC_000001.11:g.230702853G>A	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 296069	NC_000001.11:g.230702854C>T	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 874886	NC_000001.11:g.230702915A>G	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 875819	NC_000001.11:g.230702930G>A	AGT	Single nucleotide variant	Renal tubular dysgenesis	GLikely benign
Select item 296070	NC_000001.11:g.230702974A>G	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 875820	NC_000001.11:g.230702982C>T	AGT	Single nucleotide variant	Renal tubular dysgenesis	GLikely benign
Select item 875821	NC_000001.11:g.230702983G>C	AGT	Single nucleotide variant	Renal tubular dysgenesis +1 more	GBenign
Select item 296071	NC_000001.11:g.230703058C>T	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 875822	NC_000001.11:g.230703101G>A	AGT	Single nucleotide variant	Renal tubular dysgenesis	GLikely benign
Select item 791842	NC_000001.11:g.230703157G>A	AGT	Single nucleotide variant	Renal tubular dysgenesis +1 more	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 2172461	NM_001384479.1(AGT):c.1404C>T (p.Arg468=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1989009	NM_000029.4(AGT):c.1429C>T (p.Arg477Cys)	AGT	Single nucleotide variant	not provided	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 713450	NC_000001.11:g.230703204A>G	AGT	Single nucleotide variant	Essential hypertension, genetic +2 more	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 2690863	NM_001384479.1(AGT):c.1351T>A (p.Phe451Ile)	AGT (F451I)	Single nucleotide variant (missense variant)	not provided	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 1125579	NM_001384479.1(AGT):c.1345C>T (p.Arg449Cys)	AGT (R449C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2119106	NM_001384479.1(AGT):c.1332G>A (p.Glu444=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 296072	NC_000001.11:g.230703254G>C	AGT	Single nucleotide variant	Renal tubular dysgenesis	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 296073	NC_000001.11:g.230703274G>A	AGT	Single nucleotide variant	not provided +3 more	GLikely benign
Select item 876805	NM_000029.4(AGT):c.1301C>T (p.Ala434Val)	AGT	Single nucleotide variant	Essential hypertension, genetic +2 more	GUncertain significance
Select item 1328402	NM_001384479.1(AGT):c.1263dup (p.Glu422Ter)	AGT (E422*)	Duplication (nonsense)	Large fontanelles +1 more	GLikely pathogenic
Select item 18072	NC_000001.11:g.230703316del	AGT	Deletion	Renal tubular dysgenesis	GPathogenic
Select item 3507860	NM_001384479.1(AGT):c.1247T>C (p.Leu416Pro)	AGT (L416P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 813621	NM_000029.4(AGT):c.1270-1G>A	AGT	Single nucleotide variant	Microcephaly	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 1982309	NM_001384479.1(AGT):c.1236G>C (p.Val412=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 876806	NC_000001.11:g.230704201C>T	AGT	Single nucleotide variant	Renal tubular dysgenesis +1 more	GUncertain significance
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 876807	NC_000001.11:g.230704229C>A	AGT	Single nucleotide variant	Renal tubular dysgenesis +1 more	GConflicting classifications of pathogenicity
Select item 296074	NC_000001.11:g.230704240C>T	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 2713775	NM_001384479.1(AGT):c.1194C>T (p.Thr398=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1623773	NM_001384479.1(AGT):c.1180_1182dup (p.Ala394dup)	AGT	Duplication (inframe_insertion)	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 876808	NC_000001.11:g.230704288G>T	AGT	Single nucleotide variant	Renal tubular dysgenesis +1 more	GConflicting classifications of pathogenicity
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 296075	NC_000001.11:g.230704308A>G	AGT	Single nucleotide variant	not provided +1 more	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 3507869	NM_001384479.1(AGT):c.1099A>T (p.Thr367Ser)	AGT (T367S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 742238	NM_000029.4(AGT):c.1125-10A>G	AGT	Single nucleotide variant	not provided	GLikely benign
Select item 296076	NC_000001.11:g.230704350T>C	AGT	Single nucleotide variant	not provided +1 more	GBenign
Select item 1280906	NM_001384479.1(AGT):c.1098-114G>T	AGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226630	NM_001384479.1(AGT):c.1098-186T>C	AGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288046	NM_001384479.1(AGT):c.1097+170T>C	AGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276076	NM_001384479.1(AGT):c.1097+120C>T	AGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228271	NM_001384479.1(AGT):c.1097+118C>T	AGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2157223	NM_001384479.1(AGT):c.1097+8C>T	AGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 18070	NC_000001.11:g.230705933C>T	AGT	Single nucleotide variant	Renal tubular dysgenesis	GPathogenic
Select item 254725	NC_000001.11:g.230705941T>C	AGT	Single nucleotide variant	not specified +4 more	GBenign/Likely benign
Select item 429714	NM_001384479.1(AGT):c.1060C>T	AGT	Single nucleotide variant	Essential hypertension, genetic +2 more	GPathogenic/Likely pathogenic
Select item 873999	NC_000001.11:g.230705986C>A	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 874000	NC_000001.11:g.230706003C>T	AGT	Single nucleotide variant	not provided +3 more	GUncertain significance
Select item 874001	NC_000001.11:g.230706004A>G	AGT	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 796875	NM_000029.4(AGT):c.1050C>G (p.Ala350=)	AGT	Single nucleotide 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 720905	NC_000001.11:g.230706034G>A	AGT	Single nucleotide variant	Renal tubular dysgenesis +1 more	GBenign
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 874002	NC_000001.11:g.230706039C>T	AGT	Single nucleotide variant	Renal tubular dysgenesis	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 749839	NM_000029.4(AGT):c.984C>T (p.Asn328=)	AGT	Single nucleotide variant	not provided	GLikely benign
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 2027607	NM_001384479.1(AGT):c.933G>A (p.Gln311=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 296077	NC_000001.11:g.230706106G>A	AGT	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity
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 758268	NM_001384479.1(AGT):c.906C>A	AGT	Single nucleotide variant	not provided +2 more	GLikely benign
Select item 2175734	NM_001384479.1(AGT):c.894A>C (p.Ser298=)	AGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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