C4552070[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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

Search results

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 333629	NM_001204.7(BMPR2):c.-669G>A	BMPR2, LOC129935434	Single nucleotide variant (5 prime UTR variant)	Pulmonary arterial hypertension	GBenign FDA Recognized database
Select item 898415	NM_001204.7(BMPR2):c.-434G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 333632	NM_001204.7(BMPR2):c.-407G>T	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 333634	NM_001204.7(BMPR2):c.-301G>A	BMPR2	Single nucleotide variant (5 prime UTR variant)	Pulmonary hypertension, primary, 1 +4 more	GBenign/Likely benign
Select item 895425	NM_001204.7(BMPR2):c.57G>A (p.Leu19=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +2 more	GBenign/Likely benign
Select item 698629	NM_001204.7(BMPR2):c.63C>T (p.Val21=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension +4 more	GBenign/Likely benign
Select item 195138	NM_001204.7(BMPR2):c.136A>G (p.Ile46Val)	BMPR2 (I46V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +2 more	GUncertain significance
Select item 1589364	NM_001204.7(BMPR2):c.150A>G (p.Arg50=)	BMPR2	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 1 +2 more	GLikely benign
Select item 425708	NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer)	BMPR2	Microsatellite (frameshift variant)	Pulmonary hypertension, primary, 1 +3 more	GPathogenic/Likely pathogenic
Select item 225305	NM_001204.7(BMPR2):c.276A>C (p.Gln92His)	BMPR2 (Q92H)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +3 more	GConflicting classifications of pathogenicity
Select item 222513	NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter)	BMPR2 (R147*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +3 more	GPathogenic
Select item 548686	NM_001204.7(BMPR2):c.529+1G>A	BMPR2	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, primary, 1 +2 more	GPathogenic/Likely pathogenic
Select item 896823	NM_001204.7(BMPR2):c.549T>C (p.Leu183=)	BMPR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 162791	NM_001204.7(BMPR2):c.600A>C (p.Leu200=)	BMPR2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 8812	NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter)	BMPR2 (R211*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +3 more	GPathogenic
Select item 703661	NM_001204.7(BMPR2):c.726C>T (p.Asn242=)	BMPR2	Single nucleotide variant (synonymous variant)	Primary pulmonary hypertension +2 more	GLikely benign
Select item 425842	NM_001204.7(BMPR2):c.908G>A (p.Arg303His)	BMPR2 (R303H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1377673	NM_001204.7(BMPR2):c.983C>T (p.Ala328Val)	BMPR2 (A328V)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +2 more	GUncertain significance
Select item 1112108	NM_001204.7(BMPR2):c.1037C>A (p.Thr346Asn)	BMPR2 (T346N)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database
Select item 425898	NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter)	BMPR2 (W414*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +1 more	GLikely pathogenic
Select item 409813	NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter)	BMPR2 (W466*)	Single nucleotide variant (nonsense)	Primary pulmonary hypertension +2 more	GPathogenic
Select item 409828	NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp)	BMPR2 (E503D)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GLikely benign FDA Recognized database
Select item 425955	NM_001204.7(BMPR2):c.1516A>G (p.Met506Val)	BMPR2 (M506V)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension	GUncertain significance FDA Recognized database
Select item 898482	NM_001204.7(BMPR2):c.1586G>A (p.Arg529His)	BMPR2 (R529H)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 1100664	NM_001204.7(BMPR2):c.1863G>A (p.Thr621=)	BMPR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 548687	NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys)	BMPR2 (E785K)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +3 more	GConflicting classifications of pathogenicity
Select item 1398400	NM_001204.7(BMPR2):c.2526G>T (p.Arg842Ser)	BMPR2 (R842S)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +2 more	GConflicting classifications of pathogenicity
Select item 8796	NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter)	BMPR2 (R899*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1 +3 more	GPathogenic
Select item 333665	NM_001204.7(BMPR2):c.*815C>T	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary venoocclusive disease 1 +1 more	GUncertain significance
Select item 333677	NM_001204.7(BMPR2):c.*2491T>C	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 333680	NM_001204.7(BMPR2):c.*2833G>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 333681	NM_001204.7(BMPR2):c.*2854T>G	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 333689	NM_001204.7(BMPR2):c.*3354G>T	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary venoocclusive disease 1 +1 more	GUncertain significance
Select item 898678	NM_001204.7(BMPR2):c.*5252A>G	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 898679	NM_001204.7(BMPR2):c.*5535G>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 333712	NM_001204.7(BMPR2):c.*5624A>G	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 895978	NM_001204.7(BMPR2):c.*6731G>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 333724	NM_001204.7(BMPR2):c.*7080G>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 897581	NM_001204.7(BMPR2):c.*7273G>A	BMPR2	Single nucleotide variant (3 prime UTR variant)	Pulmonary hypertension, primary, 1 +1 more	GUncertain significance
Select item 212804	NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)	ACVRL1 (R144*)	Single nucleotide variant (nonsense)	Telangiectasia, hereditary hemorrhagic, type 2 +2 more	GPathogenic
Select item 584	NM_000277.3(PAH):c.754C>T (p.Arg252Trp)	PAH (R252W)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102706	NM_000277.3(PAH):c.506G>A (p.Arg169His)	PAH (R169H)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database

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: 42