ClinVar for Gene (Select 185) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361382	NM_000685.5(AGTR1):c.742_743del (p.Phe248fs)	AGTR1 (F248fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3357213	NM_000685.5(AGTR1):c.-47-1064C>G	AGTR1	Single nucleotide variant (5 prime UTR variant +1 more)	AGTR1-related disorder	GLikely benign
Select item 3276698	NM_000685.5(AGTR1):c.166T>C (p.Tyr56His)	AGTR1 (Y56H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276687	NM_000685.5(AGTR1):c.43C>G (p.Gln15Glu)	AGTR1 (Q15E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276676	NM_000685.5(AGTR1):c.907G>A (p.Gly303Ser)	AGTR1 (G303S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246874	NC_000003.11:g.(?_148447967)_(149678891_?)del	AGTR1, ANKUB1 +12 more	Deletion	Deficiency of ferroxidase	GPathogenic
Select item 3097384	NM_000685.5(AGTR1):c.814C>T (p.Arg272Cys)	AGTR1 (R272C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047667	NM_000685.5(AGTR1):c.339C>T (p.Tyr113=)	AGTR1	Single nucleotide variant (synonymous variant)	AGTR1-related disorder	GLikely benign
Select item 3045256	NM_000685.5(AGTR1):c.-47-1034C>T	AGTR1	Single nucleotide variant (5 prime UTR variant +1 more)	AGTR1-related disorder	GLikely benign
Select item 2991868	NM_000685.5(AGTR1):c.942C>G (p.Leu314=)	AGTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973696	NM_000685.5(AGTR1):c.120G>A (p.Val40=)	AGTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966109	NM_000685.5(AGTR1):c.321C>T (p.Ser107=)	AGTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752899	NM_000685.5(AGTR1):c.690G>A (p.Lys230=)	AGTR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2710185	NM_000685.5(AGTR1):c.741T>A (p.Leu247=)	AGTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2635899	NM_000685.5(AGTR1):c.622T>C (p.Phe208Leu)	AGTR1 (F208L)	Single nucleotide variant (missense variant)	AGTR1-related disorder	GUncertain significance
Select item 2634148	NM_000685.5(AGTR1):c.-17C>T	AGTR1	Single nucleotide variant (5 prime UTR variant)	AGTR1-related disorder	GUncertain significance
Select item 2630021	NM_000685.5(AGTR1):c.37del (p.Arg13fs)	AGTR1 (R13fs)	Deletion (frameshift variant)	AGTR1-related disorder	GUncertain significance
Select item 2537130	NM_000685.5(AGTR1):c.779C>T (p.Thr260Ile)	AGTR1 (T260I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469115	NM_000685.5(AGTR1):c.575C>T (p.Pro192Leu)	AGTR1 (P192L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2430252	NM_000685.5(AGTR1):c.415C>T (p.Arg139Ter)	AGTR1 (R139*)	Single nucleotide variant (nonsense)	Renal tubular dysgenesis of genetic origin	GPathogenic/Likely pathogenic
Select item 2377606	NM_000685.5(AGTR1):c.1046C>T (p.Thr349Ile)	AGTR1 (T349I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307617	NM_000685.5(AGTR1):c.707A>T (p.Asp236Val)	AGTR1 (D236V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286663	NM_000685.5(AGTR1):c.797T>C (p.Ile266Thr)	AGTR1 (I266T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219027	NM_000685.5(AGTR1):c.800A>G (p.Gln267Arg)	AGTR1 (Q267R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196174	NM_000685.5(AGTR1):c.377G>A (p.Arg126Gln)	AGTR1 (R126Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153449	NM_000685.5(AGTR1):c.805G>A (p.Gly269Ser)	AGTR1 (G269S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144773	NM_000685.5(AGTR1):c.1066T>G (p.Phe356Val)	AGTR1 (F356V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140443	NM_000685.5(AGTR1):c.307A>T (p.Ile103Phe)	AGTR1 (I103F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100447	NM_000685.5(AGTR1):c.177G>A (p.Leu59=)	AGTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075905	NM_000685.5(AGTR1):c.974A>G (p.Lys325Arg)	AGTR1 (K325R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072860	NM_000685.5(AGTR1):c.400A>G (p.Met134Val)	AGTR1 (M134V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072843	NM_000685.5(AGTR1):c.-47-10781A>G	AGTR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2057287	NM_000685.5(AGTR1):c.155T>G (p.Val52Gly)	AGTR1 (V52G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2036891	NM_000685.5(AGTR1):c.-47-10770G>C	AGTR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2021791	NM_000685.5(AGTR1):c.-41T>G	AGTR1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2006967	NM_000685.5(AGTR1):c.993A>G (p.Ser331=)	AGTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1996385	NM_000685.5(AGTR1):c.729G>T (p.Met243Ile)	AGTR1 (M243I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973545	NM_000685.5(AGTR1):c.732A>G (p.Ala244=)	AGTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928694	NM_000685.5(AGTR1):c.584T>C (p.Leu195Pro)	AGTR1 (L195P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920250	NM_000685.5(AGTR1):c.1054C>T (p.Pro352Ser)	AGTR1 (P352S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918633	NM_000685.5(AGTR1):c.202T>C (p.Leu68=)	AGTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910330	NM_000685.5(AGTR1):c.1019G>A (p.Arg340His)	AGTR1 (R340H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900030	NM_000685.5(AGTR1):c.507A>G (p.Val169=)	AGTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1685513	NM_000685.5(AGTR1):c.419G>A (p.Arg140His)	AGTR1 (R140H)	Single nucleotide variant (missense variant)	Essential hypertension, genetic	GPathogenic
Select item 1685512	NM_000685.5(AGTR1):c.233del (p.Leu78fs)	AGTR1 (L78fs)	Deletion (frameshift variant)	Essential hypertension, genetic	GPathogenic
Select item 1581655	NM_000685.5(AGTR1):c.1017C>T (p.Tyr339=)	AGTR1	Single nucleotide variant (synonymous variant)	Essential hypertension, genetic +2 more	GLikely benign
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1522407	NM_000685.5(AGTR1):c.138C>G (p.Asn46Lys)	AGTR1 (N46K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521584	NM_000685.5(AGTR1):c.736G>C (p.Val246Leu)	AGTR1 (V246L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512488	NM_000685.5(AGTR1):c.733A>G (p.Ile245Val)	AGTR1 (I245V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496871	NM_000685.5(AGTR1):c.253G>T (p.Ala85Ser)	AGTR1 (A85S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482663	NM_000685.5(AGTR1):c.1080A>G (p.Ter360Trp)	AGTR1	Single nucleotide variant (stop lost)	not provided +2 more	GUncertain significance
Select item 1459543	NC_000003.11:g.(?_148447967)_(151176497_?)del	CPB1, EIF2A +28 more	Deletion	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 1448934	NM_000685.5(AGTR1):c.208T>A (p.Leu70Ile)	AGTR1 (L70I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1378421	NM_000685.5(AGTR1):c.428T>G (p.Leu143Arg)	AGTR1 (L143R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369328	NM_000685.5(AGTR1):c.925T>C (p.Phe309Leu)	AGTR1 (F309L)	Single nucleotide variant (missense variant)	Essential hypertension, genetic +2 more	GUncertain significance
Select item 1330237	NM_000685.5(AGTR1):c.761T>A (p.Ile254Asn)	AGTR1 (I254N)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis of genetic origin	GUncertain significance
Select item 1330236	NM_000685.5(AGTR1):c.221A>C (p.Asp74Ala)	AGTR1 (D74A)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis of genetic origin	GUncertain significance
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1328412	NM_000685.5(AGTR1):c.377G>C (p.Arg126Pro)	AGTR1 (R126P)	Single nucleotide variant (missense variant)	Renal dysplasia, cystic, susceptibility to +1 more	GUncertain significance
Select item 1328400	NM_000685.5(AGTR1):c.879del (p.Phe293fs)	AGTR1 (F293fs)	Deletion (frameshift variant)	Renal tubular dysgenesis	GLikely pathogenic
Select item 1278984	NM_000685.5(AGTR1):c.-47-1134T>C	AGTR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1252496	NM_000685.5(AGTR1):c.-47-866T>C	AGTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233874	NM_000685.5(AGTR1):c.-47-11020G>A	AGTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232440	NM_000685.5(AGTR1):c.-47-931T>C	AGTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227022	NM_000685.5(AGTR1):c.-47-313T>A	AGTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220644	NM_000685.5(AGTR1):c.-47-1303T>C	AGTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184963	NM_000685.5(AGTR1):c.696_700del (p.Pro233fs)	AGTR1 (P233fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1179033	NM_000685.5(AGTR1):c.599dup (p.Asn200fs)	AGTR1 (N200fs)	Duplication (frameshift variant)	Essential hypertension +2 more	GLikely pathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 902892	NM_000685.5(AGTR1):c.*672G>C	AGTR1	Single nucleotide variant (3 prime UTR variant)	Renal tubular dysgenesis	GUncertain significance
Select item 902891	NM_000685.5(AGTR1):c.*593G>A	AGTR1	Single nucleotide variant (3 prime UTR variant)	Renal tubular dysgenesis	GUncertain significance
Select item 902890	NM_000685.5(AGTR1):c.*584C>T	AGTR1	Single nucleotide variant (3 prime UTR variant)	Renal tubular dysgenesis	GUncertain significance
Select item 902889	NM_000685.5(AGTR1):c.*556T>C	AGTR1	Single nucleotide variant (3 prime UTR variant)	Renal tubular dysgenesis	GUncertain significance
Select item 902832	NM_000685.5(AGTR1):c.113T>C (p.Ile38Thr)	AGTR1 (I73T +1 more)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +2 more	GUncertain significance
Select item 901994	NM_000685.5(AGTR1):c.*432G>A	AGTR1	Single nucleotide variant (3 prime UTR variant)	Renal tubular dysgenesis	GUncertain significance
Select item 901993	NM_000685.5(AGTR1):c.*229C>T	AGTR1	Single nucleotide variant (3 prime UTR variant)	Renal tubular dysgenesis	GUncertain significance
Select item 901992	NM_000685.5(AGTR1):c.*178G>A	AGTR1	Single nucleotide variant (3 prime UTR variant)	Renal tubular dysgenesis	GUncertain significance
Select item 901930	NM_000685.5(AGTR1):c.-48+7G>A	AGTR1	Single nucleotide variant (intron variant)	Renal tubular dysgenesis	GUncertain significance
Select item 901929	NM_000685.5(AGTR1):c.-115A>G	AGTR1	Single nucleotide variant (5 prime UTR variant +1 more)	Renal tubular dysgenesis	GUncertain significance
Select item 901928	NM_000685.5(AGTR1):c.-227T>C	AGTR1	Single nucleotide variant (5 prime UTR variant)	Renal tubular dysgenesis	GUncertain significance
Select item 901927	NM_000685.5(AGTR1):c.-353C>G	AGTR1	Single nucleotide variant (5 prime UTR variant)	Renal tubular dysgenesis	GUncertain significance
Select item 901433	NM_000685.5(AGTR1):c.*93A>G	AGTR1	Single nucleotide variant (3 prime UTR variant)	Renal tubular dysgenesis	GBenign
Select item 901432	NM_000685.5(AGTR1):c.*48G>A	AGTR1	Single nucleotide variant (3 prime UTR variant)	Renal tubular dysgenesis	GUncertain significance
Select item 901431	NM_000685.5(AGTR1):c.*40A>T	AGTR1	Single nucleotide variant (3 prime UTR variant)	Renal tubular dysgenesis	GUncertain significance
Select item 900271	NM_000685.5(AGTR1):c.815G>C (p.Arg272Pro)	AGTR1 (R307P +1 more)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis	GUncertain significance
Select item 900270	NM_000685.5(AGTR1):c.697C>A (p.Pro233Thr)	AGTR1 (P233T +1 more)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +2 more	GUncertain significance
Select item 900269	NM_000685.5(AGTR1):c.500G>A (p.Arg167Gln)	AGTR1 (R202Q +1 more)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +1 more	GConflicting classifications of pathogenicity
Select item 899395	NM_031850.3(AGTR1):c.*902A>G	AGTR1	Single nucleotide variant	Renal tubular dysgenesis	GUncertain significance
Select item 899394	NM_000685.5(AGTR1):c.*883T>C	AGTR1	Single nucleotide variant (3 prime UTR variant)	Renal tubular dysgenesis	GUncertain significance
Select item 899393	NM_000685.5(AGTR1):c.*816C>A	AGTR1	Single nucleotide variant (3 prime UTR variant)	Renal tubular dysgenesis	GUncertain significance
Select item 814486	GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1	WWTR1, CP +23 more	Copy number loss	not provided	GLikely pathogenic
Select item 773450	NM_000685.5(AGTR1):c.730G>T (p.Ala244Ser)	AGTR1 (A279S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 765059	NM_000685.5(AGTR1):c.298C>T (p.Leu100=)	AGTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764781	NM_000685.5(AGTR1):c.576G>A (p.Pro192=)	AGTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748823	NM_000685.5(AGTR1):c.1059A>C (p.Ala353=)	AGTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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