C4551861[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 425462	NM_001114753.3(ENG):c.1970T>C (p.Met657Thr)	ENG (M657T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 810421	NM_001114753.3(ENG):c.1876G>A (p.Val626Met)	ENG (V444M +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 810422	NM_001114753.3(ENG):c.1853-14GCTCCC[3]	ENG	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 810423	NM_001114753.3(ENG):c.1850C>T (p.Thr617Met)	ENG (T617M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1056407	NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg)	ENG, LOC102723566 (P395R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
Select item 282707	NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)	ENG, LOC102723566 (R571C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance FDA Recognized database
Select item 1331646	NM_001114753.3(ENG):c.1687-1G>A	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 237020	NM_001114753.3(ENG):c.1533G>A (p.Ala511=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GBenign/Likely benign
Select item 842548	NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)	ENG, LOC102723566 (D309fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic/Likely pathogenic
Select item 569033	NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg)	ENG, LOC102723566 (K438R +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GUncertain significance
Select item 162498	NM_001114753.3(ENG):c.1273-2A>G	ENG, LOC102723566	Single nucleotide variant (splice acceptor variant)	not specified +4 more	GPathogenic/Likely pathogenic
Select item 1514999	NM_001114753.3(ENG):c.1263C>G (p.Ile421Met)	ENG, LOC102723566 (I239M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 458327	NM_001114753.3(ENG):c.1133C>T (p.Ala378Val)	ENG (A378V +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +2 more	GUncertain significance
Select item 407115	NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	ENG (G331S +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic FDA Recognized database
Select item 1061804	NM_001114753.3(ENG):c.889C>G (p.Gln297Glu)	ENG (Q115E +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +2 more	GUncertain significance
Select item 458355	NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)	ENG (Q270* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemorrhagic telangiectasia +2 more	GPathogenic
Select item 583280	NM_001114753.3(ENG):c.805A>G (p.Met269Val)	ENG (M269V +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 419981	NM_001114753.3(ENG):c.721_725del (p.Ser241fs)	ENG (S59fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 419982	NM_001114753.3(ENG):c.715G>T (p.Glu239Ter)	ENG (E239* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 572674	NM_001114753.3(ENG):c.680A>G (p.His227Arg)	ENG (H227R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +1 more	GConflicting classifications of pathogenicity
Select item 407122	NM_001114753.3(ENG):c.589C>T (p.Arg197Trp)	ENG (R197W +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1284778	NM_001114753.3(ENG):c.583G>A (p.Glu195Lys)	ENG (E13K +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 213200	NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)	ENG (G191D +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GBenign FDA Recognized database
Select item 1428437	NM_001114753.3(ENG):c.505C>T (p.Leu169Phe)	ENG (L169F)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia +1 more	GUncertain significance
Select item 237027	NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)	ENG (W149C)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic FDA Recognized database
Select item 953373	NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)	ENG (E148Q)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 810425	NM_001114753.3(ENG):c.387G>A (p.Glu129=)	ENG	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 402828	NM_001114753.3(ENG):c.374T>C (p.Val125Ala)	ENG (V125A)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GUncertain significance
Select item 528068	NM_001114753.3(ENG):c.360C>T (p.Tyr120=)	ENG	Single nucleotide variant (synonymous variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GUncertain significance
Select item 407139	NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)	ENG (H108Y)	Indel (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 265371	NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)	ENG (R93*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 458330	NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)	ENG (E41K)	Single nucleotide variant (missense variant +1 more)	Telangiectasia, hereditary hemorrhagic, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 844639	NM_001114753.3(ENG):c.116G>A (p.Arg39Lys)	ENG (R39K)	Single nucleotide variant (missense variant +1 more)	Hereditary hemorrhagic telangiectasia +2 more	GUncertain significance
Select item 237030	NM_001114753.3(ENG):c.68-1G>A	ENG	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 365107	NM_000118.3(ENG):c.-339C>T	ENG	Single nucleotide variant	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 372722	NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	ACVRL1 (R479*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic

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: 36