C0266313[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 874723	NM_000537.4(REN):c.718G>A (p.Gly240Arg)	REN (G240R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 294959	NM_000537.4(REN):c.492+3A>G	REN	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 294963	NM_000537.4(REN):c.267G>T (p.Glu89Asp)	REN (E89D)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis of genetic origin +4 more	GUncertain significance
Select item 13123	NM_000537.4(REN):c.145C>T (p.Arg49Ter)	REN (R49*)	Single nucleotide variant (nonsense)	Familial juvenile hyperuricemic nephropathy type 2 +2 more	GPathogenic/Likely pathogenic
Select item 50210	NM_000537.4(REN):c.127C>T (p.Arg43Ter)	REN (R43*)	Single nucleotide variant (nonsense)	Renal tubular dysgenesis of genetic origin +1 more	GPathogenic
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 254725	NC_000001.11:g.230705941T>C	AGT	Single nucleotide variant	not provided +4 more	GBenign/Likely benign
Select item 874000	NC_000001.11:g.230706003C>T	AGT	Single nucleotide variant	not provided +3 more	GUncertain significance
Select item 296077	NC_000001.11:g.230706106G>A	AGT	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity
Select item 728571	NC_000001.11:g.230706145G>A	AGT	Single nucleotide variant	Renal tubular dysgenesis +3 more	GBenign/Likely benign
Select item 296082	NC_000001.11:g.230710177T>G	AGT	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity
Select item 296084	NC_000001.11:g.230710439C>A	AGT	Single nucleotide variant	not provided +3 more	GUncertain significance
Select item 731749	NC_000001.11:g.230710441G>A	AGT	Single nucleotide variant	Renal tubular dysgenesis +3 more	GBenign/Likely benign
Select item 876869	NM_001384479.1(AGT):c.31A>C	AGT	Single nucleotide variant	Essential hypertension, genetic +2 more	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 343670	NM_000685.5(AGTR1):c.340G>A (p.Ala114Thr)	AGTR1 (A149T +1 more)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis of genetic origin +3 more	GUncertain significance
Select item 1179033	NM_000685.5(AGTR1):c.599dup (p.Asn200fs)	AGTR1 (N200fs)	Duplication (frameshift variant)	Essential hypertension +2 more	GLikely pathogenic
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 343674	NM_000685.5(AGTR1):c.893A>G (p.Asn298Ser)	AGTR1 (N333S +1 more)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis of genetic origin +3 more	GUncertain significance
Select item 18065	NM_000685.5(AGTR1):c.*86A>C	AGTR1	Single nucleotide variant (3 prime UTR variant)	Renal tubular dysgenesis +3 more	GBenign/Likely benign
Select item 890391	NM_000789.4(ACE):c.22C>T (p.Arg8Trp)	ACE (R8W)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +4 more	GUncertain significance
Select item 1219086	NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del)	ACE	Deletion (inframe_deletion +1 more)	Renal tubular dysgenesis +4 more	GConflicting classifications of pathogenicity
Select item 324361	NM_000789.4(ACE):c.177G>A (p.Gln59=)	ACE	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 890948	NM_000789.4(ACE):c.231G>A (p.Ala77=)	ACE, LOC130061383	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +4 more	GBenign/Likely benign
Select item 324362	NM_000789.4(ACE):c.383G>A (p.Gly128Asp)	ACE (G128D)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +3 more	GUncertain significance
Select item 892184	NM_000789.4(ACE):c.447G>C (p.Arg149Ser)	ACE (R149S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 888747	NM_000789.4(ACE):c.477C>T (p.Pro159=)	ACE	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +4 more	GBenign/Likely benign
Select item 888751	NM_000789.4(ACE):c.590G>A (p.Gly197Asp)	ACE (G197D)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +3 more	GUncertain significance
Select item 777208	NM_000789.4(ACE):c.656-9C>T	ACE	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 891019	NM_000789.4(ACE):c.1020C>T (p.Pro340=)	ACE	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +4 more	GBenign/Likely benign
Select item 778721	NM_000789.4(ACE):c.1038G>C (p.Ser346=)	ACE	Single nucleotide variant (synonymous variant)	Hemorrhage, intracerebral, susceptibility to +4 more	GBenign/Likely benign
Select item 324374	NM_000789.4(ACE):c.1060G>A (p.Gly354Arg)	ACE (G354R)	Single nucleotide variant (missense variant)	Microvascular complications of diabetes, susceptibility to, 3 +4 more	GBenign/Likely benign
Select item 777209	NM_000789.4(ACE):c.1119-8C>T	ACE	Single nucleotide variant (intron variant)	Renal tubular dysgenesis +4 more	GBenign/Likely benign
Select item 892246	NM_000789.4(ACE):c.1135C>T (p.Arg379Trp)	ACE (R379W)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +4 more	GUncertain significance
Select item 324376	NM_000789.4(ACE):c.1227T>C (p.Arg409=)	ACE	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 888835	NM_000789.4(ACE):c.1510C>T (p.Pro504Ser)	ACE (P504S)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +4 more	GUncertain significance
Select item 324382	NM_000789.4(ACE):c.1523G>A (p.Arg508Gln)	ACE (R508Q)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +3 more	GUncertain significance
Select item 890532	NM_000789.4(ACE):c.1681C>T (p.Arg561Trp)	ACE (R561W)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis of genetic origin +4 more	GBenign/Likely benign
Select item 324389	NM_000789.4(ACE):c.1915G>A (p.Gly639Ser)	ACE (G639S)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +4 more	GUncertain significance
Select item 324390	NM_000789.4(ACE):c.2189C>A (p.Ala730Glu)	ACE (A730E +1 more)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +3 more	GUncertain significance
Select item 324391	NM_000789.4(ACE):c.2299G>A (p.Glu767Lys)	ACE (E767K +1 more)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +4 more	GUncertain significance
Select item 50209	NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)	ACE (R791* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 777210	NM_000789.4(ACE):c.2382G>A (p.Ala794=)	ACE	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 324396	NM_000789.4(ACE):c.2483T>C (p.Met828Thr)	ACE (M828T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 890610	NM_000789.4(ACE):c.2518C>A (p.Arg840=)	ACE	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +4 more	GBenign/Likely benign
Select item 324398	NM_000789.4(ACE):c.2570G>A (p.Arg857His)	ACE (R857H +1 more)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +3 more	GUncertain significance
Select item 324405	NM_000789.4(ACE):c.2739+5G>A	ACE	Single nucleotide variant (intron variant)	Hemorrhage, intracerebral, susceptibility to +3 more	GUncertain significance
Select item 324412	NM_000789.4(ACE):c.3038G>C (p.Gly1013Ala)	ACE (G1013A +1 more)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +3 more	GUncertain significance
Select item 888968	NM_000789.4(ACE):c.3061G>A (p.Val1021Met)	ACE (V447M +1 more)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +3 more	GUncertain significance
Select item 324414	NM_000789.4(ACE):c.3108C>A (p.Asn1036Lys)	ACE (N1036K +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 888969	NM_000789.4(ACE):c.3163A>C (p.Met1055Leu)	ACE (M481L +1 more)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +3 more	GUncertain significance
Select item 889650	NM_000789.4(ACE):c.3363T>C (p.Ser1121=)	ACE	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +4 more	GBenign/Likely benign
Select item 256804	NM_000789.4(ACE):c.3387T>C (p.Phe1129=)	ACE	Single nucleotide variant (synonymous variant +1 more)	Hemorrhage, intracerebral, susceptibility to +5 more	GBenign/Likely benign
Select item 889651	NM_000789.4(ACE):c.3489C>T (p.Ala1163=)	ACE	Single nucleotide variant (synonymous variant +1 more)	Renal tubular dysgenesis +4 more	GBenign/Likely benign
Select item 324419	NM_000789.4(ACE):c.3769G>A (p.Val1257Met)	ACE (V1257M +2 more)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +3 more	GUncertain significance
Select item 324420	NM_000789.4(ACE):c.3801C>T (p.Ile1267=)	ACE	Single nucleotide variant (synonymous variant)	Microvascular complications of diabetes, susceptibility to, 3 +4 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 57